#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
PTCH2	8643	broad.mit.edu	37	1	45288988	45288988	+	Missense_Mutation	SNP	C	C	T	rs142187073	byFrequency	TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr1:45288988C>T	ENST00000372192.3	-	20	3314	c.3184G>A	c.(3184-3186)Gtg>Atg	p.V1062M	PTCH2_ENST00000447098.2_Missense_Mutation_p.V1062M	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	1062					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CCATCGGTCACGGGGGCAAAT	0.617									Basal Cell Nevus syndrome				c|||	2	0.000399361	0.0015	0.0	5008	,	,		20441	0.0		0.0	False		,,,				2504	0.0					uc010olf.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50						c.(3184-3186)Gtg>Atg		Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.			MET/VAL,MET/VAL	11,4395	17.9+/-39.9	0,11,2192	64.0	63.0	63.0		3184,3184	4.3	0.5	1	dbSNP_134	63	0,8600		0,0,4300	yes	missense,missense	PTCH2	NM_001166292.1,NM_003738.4	21,21	0,11,6492	TT,TC,CC		0.0,0.2497,0.0846	probably-damaging,probably-damaging	1062/1147,1062/1204	45288988	11,12995	2203	4300	6503	SO:0001583	missense	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45288988C>T	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.3184G>A	1.37:g.45288988C>T	ENSP00000361266:p.Val1062Met					PTCH2_uc021omv.1_Missense_Mutation_p.V1062M|PTCH2_uc010olg.2_Missense_Mutation_p.V760M	p.V1062M	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN			19	3196	-	Acute lymphoblastic leukemia(166;0.155)		1062					O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	c.3184G>A	CCDS516.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	17.93	3.510257	0.64522	0.002497	0.0	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.87256	-2.23;-2.23	4.32	4.32	0.51571	.	0.159733	0.29376	N	0.012330	D	0.93706	0.7989	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.74023	0.954;0.982	D	0.94181	0.7432	9	.	.	.	-33.9701	16.9784	0.86320	0.0:1.0:0.0:0.0	.	1062;1062	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	M	1062	ENSP00000389703:V1062M;ENSP00000361266:V1062M	.	V	-	1	0	PTCH2	45061575	1.000000	0.71417	0.539000	0.28077	0.332000	0.28634	7.186000	0.77722	2.398000	0.81561	0.479000	0.44913	GTG		0.617	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738	
NRD1	4898	broad.mit.edu	37	1	52260179	52260179	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr1:52260179C>T	ENST00000354831.7	-	26	3133	c.2944G>A	c.(2944-2946)Ggt>Agt	p.G982S	NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000539524.1_Missense_Mutation_p.G850S|NRD1_ENST00000352171.7_Missense_Mutation_p.G914S|RP4-657D16.3_ENST00000586761.1_RNA|RP4-657D16.3_ENST00000588291.1_RNA|RP4-657D16.3_ENST00000591675.1_RNA	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	913					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TTGGCATCACCCTTGTTCAGA	0.547																																						uc001ctc.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(2944-2946)Ggt>Agt		Homo sapiens nardilysin (N-arginine dibasic convertase) (NRD1), transcript variant 1, mRNA.							222.0	217.0	218.0					1																	52260179		2203	4300	6503	SO:0001583	missense	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52260179C>T	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.2944G>A	1.37:g.52260179C>T	ENSP00000346890:p.Gly982Ser					NRD1_uc009vzb.3_Missense_Mutation_p.G677S|NRD1_uc001cte.3_Missense_Mutation_p.G850S|NRD1_uc001ctd.4_Missense_Mutation_p.G914S|NRD1_uc001ctf.2_Missense_Mutation_p.G914S|NRD1_uc010ong.1_Non-coding_Transcript	p.G982S	NM_002525	NP_001229290	O43847	NRDC_HUMAN			25	3266	-			913					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	37	c.2944G>A	CCDS559.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.07|18.07	3.540845|3.540845	0.65085|0.65085	.|.	.|.	ENSG00000078618|ENSG00000078618	ENST00000440943|ENST00000352171;ENST00000354831;ENST00000539524;ENST00000371665;ENST00000546169	.|T;T;T	.|0.07688	.|3.17;3.17;3.17	5.53|5.53	5.53|5.53	0.82687|0.82687	.|Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.100034|0.100034	0.64402|0.64402	D|D	0.000001|0.000001	T|T	0.07503|0.07503	0.0189|0.0189	N|N	0.25144|0.25144	0.715|0.715	0.80722|0.80722	D|D	1|1	.|P;B;B	.|0.34615	.|0.459;0.189;0.321	.|B;B;B	.|0.35859	.|0.122;0.114;0.212	T|T	0.30822|0.30822	-0.9965|-0.9965	6|10	.|0.08179	.|T	.|0.78	-14.4057|-14.4057	19.6556|19.6556	0.95837|0.95837	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|914;913;982	.|F5H6R2;O43847;B1AKJ5	.|.;NRDC_HUMAN;.	E|S	328|914;982;850;344;914	.|ENSP00000262679:G914S;ENSP00000346890:G982S;ENSP00000444416:G850S	.|ENSP00000262679:G914S	G|G	-|-	2|1	0|0	NRD1|NRD1	52032767|52032767	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.512000|5.512000	0.67030|0.67030	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GGG|GGT		0.547	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525	
HIPK1	204851	broad.mit.edu	37	1	114500841	114500841	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr1:114500841G>A	ENST00000369558.1	+	8	2141	c.1909G>A	c.(1909-1911)Gga>Aga	p.G637R	HIPK1_ENST00000369553.1_Missense_Mutation_p.G243R|HIPK1_ENST00000406344.1_Missense_Mutation_p.G243R|HIPK1_ENST00000369561.4_Missense_Mutation_p.G603R|HIPK1_ENST00000426820.2_Missense_Mutation_p.G637R|HIPK1_ENST00000369554.2_Missense_Mutation_p.G637R|HIPK1_ENST00000369555.2_Missense_Mutation_p.G637R|HIPK1_ENST00000340480.4_Missense_Mutation_p.G263R|HIPK1_ENST00000369559.4_Missense_Mutation_p.G637R			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	637					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTGCAGCCTGGAACCACCCA	0.463																																						uc001eem.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39						c.(1909-1911)Gga>Aga		Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.							107.0	103.0	105.0					1																	114500841		2203	4300	6503	SO:0001583	missense	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114500841G>A	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.1909G>A	1.37:g.114500841G>A	ENSP00000358571:p.Gly637Arg					HIPK1_uc001eel.3_Missense_Mutation_p.G637R|HIPK1_uc001een.3_Missense_Mutation_p.G637R|HIPK1_uc001eeo.3_Missense_Mutation_p.G263R|HIPK1_uc001eep.3_Missense_Mutation_p.G243R	p.G637R	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	7	2070	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	637					A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	c.1909G>A	CCDS867.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605751	0.66445	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000340480;ENST00000369553;ENST00000406344	T;T;T;T;T;T;T;T;T;T	0.52754	0.79;0.8;0.84;0.65;0.65;0.84;0.79;3.85;2.92;2.92	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000003	T	0.54615	0.1869	L	0.46157	1.445	0.54753	D	0.999984	B;D;D	0.89917	0.285;1.0;1.0	B;D;D	0.91635	0.219;0.996;0.999	T	0.39921	-0.9590	10	0.26408	T	0.33	.	18.9922	0.92798	0.0:0.0:1.0:0.0	.	243;637;637	Q86Z02-4;Q86Z02;Q86Z02-2	.;HIPK1_HUMAN;.	R	708;637;637;637;637;637;603;263;243;243	ENSP00000407442:G708R;ENSP00000358572:G637R;ENSP00000409673:G637R;ENSP00000358567:G637R;ENSP00000358568:G637R;ENSP00000358571:G637R;ENSP00000358574:G603R;ENSP00000340956:G263R;ENSP00000358566:G243R;ENSP00000384960:G243R	ENSP00000340956:G263R	G	+	1	0	HIPK1	114302364	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.286000	0.43496	2.715000	0.92844	0.561000	0.74099	GGA		0.463	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268	
RYR2	6262	broad.mit.edu	37	1	237777379	237777379	+	Silent	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr1:237777379C>T	ENST00000366574.2	+	37	5268	c.4951C>T	c.(4951-4953)Ctg>Ttg	p.L1651L	RYR2_ENST00000360064.6_Silent_p.L1649L|RYR2_ENST00000542537.1_Silent_p.L1635L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1651	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGAGGAATTGCTGAAATTTCA	0.463																																						uc001hyl.1																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(4951-4953)Ctg>Ttg		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							63.0	63.0	63.0					1																	237777379		1948	4147	6095	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237777379C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4951C>T	1.37:g.237777379C>T							p.L1651L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		36	5071	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1651			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.4951C>T	CCDS55691.1																																																																																				0.463	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
OR2T34	127068	broad.mit.edu	37	1	248737350	248737350	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr1:248737350C>T	ENST00000328782.2	-	1	730	c.709G>A	c.(709-711)Gcc>Acc	p.A237T		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A237P(2)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGCGGCCGGCGGCAGAATTC	0.562																																						uc001iep.1																			2	Substitution - Missense(2)	p.A237P(4)	lung(2)	breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43						c.(709-711)Gcc>Acc		Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA.							109.0	124.0	119.0					1																	248737350		2176	4300	6476	SO:0001583	missense	127068				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248737350C>T	BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"""GPCR / Class A : Olfactory receptors"""	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.709G>A	1.37:g.248737350C>T	ENSP00000330904:p.Ala237Thr						p.A237T	NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	709	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		237					B2RNJ8|Q6IEY5|Q96R31	Missense_Mutation	SNP	ENST00000328782.2	37	c.709G>A	CCDS31120.1	.	.	.	.	.	.	.	.	.	.	.	10.61	1.397614	0.25205	.	.	ENSG00000183310	ENST00000328782	T	0.00588	6.37	2.37	-1.05	0.10036	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00384	0.0012	N	0.10782	0.045	0.09310	N	1	B	0.18461	0.028	B	0.16289	0.015	T	0.43393	-0.9394	9	0.62326	D	0.03	.	4.3383	0.11097	0.0:0.3157:0.1794:0.5049	.	237	Q8NGX1	O2T34_HUMAN	T	237	ENSP00000330904:A237T	ENSP00000330904:A237T	A	-	1	0	OR2T34	246803973	0.000000	0.05858	0.001000	0.08648	0.091000	0.18340	-4.196000	0.00276	-0.148000	0.11234	0.123000	0.15791	GCC		0.562	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1	NM_001001821	
MUC2	4583	broad.mit.edu	37	11	1094855	1094855	+	Silent	SNP	C	C	T	rs561164943	byFrequency	TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr11:1094855C>T	ENST00000441003.2	+	31	5970	c.5943C>T	c.(5941-5943)taC>taT	p.Y1981Y	MUC2_ENST00000333592.6_Silent_p.Y269Y|MUC2_ENST00000361558.6_Silent_p.Y119Y	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4343					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ACACCTACTACGCACCAGGTA	0.607													C|||	2	0.000399361	0.0008	0.0	5008	,	,		18620	0.0		0.0	False		,,,				2504	0.001					uc001lsx.1																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(5929-5931)taC>taT		Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	Pranlukast(DB01411)						163.0	172.0	169.0					11																	1094855		2118	4238	6356	SO:0001819	synonymous_variant	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1094855C>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5943C>T	11.37:g.1094855C>T							p.Y1977Y	NM_002457	NP_002448	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	32	5958	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	2029					Q14878	Silent	SNP	ENST00000441003.2	37	c.5931C>T																																																																																					0.607	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	
SLC22A10	387775	broad.mit.edu	37	11	63071595	63071595	+	Missense_Mutation	SNP	G	G	A	rs112720090	byFrequency	TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr11:63071595G>A	ENST00000332793.6	+	8	1303	c.1301G>A	c.(1300-1302)cGt>cAt	p.R434H	SLC22A10_ENST00000544661.1_Missense_Mutation_p.V233M|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	434						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	CAGACCCTGCGTGTGGCTTTG	0.453													G|||	6	0.00119808	0.0045	0.0	5008	,	,		17216	0.0		0.0	False		,,,				2504	0.0					uc009yor.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1300-1302)cGt>cAt		Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.		G	HIS/ARG	24,4194		1,22,2086	177.0	183.0	181.0		1301	1.0	0.1	11	dbSNP_132	181	2,8534		0,2,4266	yes	missense	SLC22A10	NM_001039752.3	29	1,24,6352	AA,AG,GG		0.0234,0.569,0.2039	probably-damaging	434/542	63071595	26,12728	2109	4268	6377	SO:0001583	missense	387775					integral to membrane	transmembrane transporter activity	g.chr11:63071595G>A	AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"""Solute carriers"""	18057	protein-coding gene	gene with protein product		607580	"""solute carrier family 22 (organic anion/cation transporter), member 10"""			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.1301G>A	11.37:g.63071595G>A	ENSP00000327569:p.Arg434His					SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Missense_Mutation_p.V228M	p.R434H	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN			7	1509	+			434					Q68CJ0	Missense_Mutation	SNP	ENST00000332793.6	37	c.1301G>A	CCDS41661.1	2|2	9.157509157509158E-4|9.157509157509158E-4	2|2	0.0040650406504065045|0.0040650406504065045	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	10.26|10.26	1.301140|1.301140	0.23650|0.23650	0.00569|0.00569	2.34E-4|2.34E-4	ENSG00000184999|ENSG00000184999	ENST00000332793|ENST00000544661	T|T	0.74209|0.70399	-0.82|-0.48	3.05|3.05	0.999|0.999	0.19862|0.19862	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.62097|0.62097	0.2400|0.2400	H|H	0.94542|0.94542	3.55|3.55	0.30645|0.30645	N|N	0.75608|0.75608	B|P	0.33345|0.44776	0.409|0.843	B|B	0.34931|0.31614	0.192|0.133	T|T	0.68002|0.68002	-0.5524|-0.5524	10|9	0.54805|0.56958	T|D	0.06|0.05	.|.	3.972|3.972	0.09457|0.09457	0.1358:0.0:0.6338:0.2305|0.1358:0.0:0.6338:0.2305	.|.	434|228	Q63ZE4|E9PJB1	S22AA_HUMAN|.	H|M	434|233	ENSP00000327569:R434H|ENSP00000445667:V233M	ENSP00000327569:R434H|ENSP00000433817:V228M	R|V	+|+	2|1	0|0	SLC22A10|SLC22A10	62828171|62828171	0.952000|0.952000	0.32445|0.32445	0.109000|0.109000	0.21407|0.21407	0.224000|0.224000	0.24922|0.24922	2.097000|2.097000	0.41748|0.41748	0.145000|0.145000	0.18977|0.18977	0.579000|0.579000	0.79373|0.79373	CGT|GTG		0.453	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3	NM_001039752	
CABP4	57010	broad.mit.edu	37	11	67223870	67223870	+	Silent	SNP	C	C	T	rs139927588		TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr11:67223870C>T	ENST00000325656.5	+	3	575	c.498C>T	c.(496-498)acC>acT	p.T166T	CABP4_ENST00000438189.2_Silent_p.T61T	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	166	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				photoreceptor cell morphogenesis (GO:0008594)|phototransduction (GO:0007602)|retinal bipolar neuron differentiation (GO:0060040)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytosol (GO:0005829)|extracellular region (GO:0005576)|synapse (GO:0045202)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			ACATGCCCACCGAGATGGAGC	0.652																																						uc001olo.3																			0				central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11						c.(496-498)acC>acT		Homo sapiens calcium binding protein 4 (CABP4), mRNA.		C		1,4399	2.1+/-5.4	0,1,2199	52.0	49.0	50.0		498	-8.1	0.4	11	dbSNP_134	50	0,8590		0,0,4295	no	coding-synonymous	CABP4	NM_145200.3		0,1,6494	TT,TC,CC		0.0,0.0227,0.0077		166/276	67223870	1,12989	2200	4295	6495	SO:0001819	synonymous_variant	57010				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding	g.chr11:67223870C>T	AC005849	CCDS8166.1, CCDS73333.1	11q13.2	2013-09-20			ENSG00000175544	ENSG00000175544		"""EF-hand domain containing"""	1386	protein-coding gene	gene with protein product		608965				10625670, 16960802	Standard	NM_145200		Approved	CSNB2B	uc001olo.3	P57796	OTTHUMG00000168033	ENST00000325656.5:c.498C>T	11.37:g.67223870C>T						CABP4_uc001oln.3_Silent_p.T61T	p.T166T	NM_145200	NP_660201	P57796	CABP4_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		2	575	+			166			EF-hand 2.		Q8N4Z2|Q8WWY5	Silent	SNP	ENST00000325656.5	37	c.498C>T	CCDS8166.1																																																																																				0.652	CABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397624.2		
TRIM49C	642612	broad.mit.edu	37	11	89774448	89774448	+	Silent	SNP	G	G	A	rs77759231	byFrequency	TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr11:89774448G>A	ENST00000448984.1	+	8	1418	c.1089G>A	c.(1087-1089)aaG>aaA	p.K363K	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	TR49C_HUMAN	tripartite motif containing 49C	363	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|lung(4)	8						TGTATCGGAAGGAGAAGAATC	0.453													N|||	2316	0.46246	0.5265	0.5058	5008	,	,		16455	0.4603		0.3519	False		,,,				2504	0.4611					uc010rua.2																			0				endometrium(3)|kidney(1)|lung(4)	8						c.(1087-1089)aaG>aaA		Homo sapiens tripartite motif containing 49-like 2 (TRIM49L2), mRNA.																																				SO:0001819	synonymous_variant	642612					intracellular	zinc ion binding	g.chr11:89774448G>A	BC126470	CCDS53694.1	11q14.3	2014-02-17	2012-05-18	2012-05-18	ENSG00000204449	ENSG00000204449		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	38877	protein-coding gene	gene with protein product			"""tripartite motif containing 49-like 2"""	TRIM49L2			Standard	NM_001195234		Approved		uc010rua.2	P0CI26		ENST00000448984.1:c.1089G>A	11.37:g.89774448G>A							p.K363K	NM_001195234	NP_001182163	P0CI26	T49L2_HUMAN			7	1418	+			363			B30.2/SPRY.		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Silent	SNP	ENST00000448984.1	37	c.1089G>A	CCDS53694.1																																																																																				0.453	TRIM49C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395455.1	NM_001195234	
PRB2	653247	broad.mit.edu	37	12	11546320	11546322	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr12:11546320_11546322delTTG	ENST00000389362.4	-	3	725_727	c.690_692delCAA	c.(688-693)aacaag>aag	p.N230del	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	230	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACTTTGGGACTTGTTGTCTCCTT	0.601																																						uc010shk.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(688-693)aacaag>aag		Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.																																				SO:0001651	inframe_deletion	653247							g.chr12:11546320_11546322delTTG	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.690_692delCAA	12.37:g.11546323_11546325delTTG	ENSP00000374013:p.Asn230del						p.N230del	NM_006248	NP_006239			OV - Ovarian serous cystadenocarcinoma(49;0.185)		2	725_727	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	In_Frame_Del	DEL	ENST00000389362.4	37	c.690_692delCAA	CCDS41757.2																																																																																				0.601	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248	
CACNB3	784	broad.mit.edu	37	12	49218469	49218469	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr12:49218469C>T	ENST00000301050.2	+	5	624	c.425C>T	c.(424-426)tCc>tTc	p.S142F	CACNB3_ENST00000540990.1_Missense_Mutation_p.S129F|CACNB3_ENST00000547230.1_Missense_Mutation_p.S101F|CACNB3_ENST00000536187.2_Missense_Mutation_p.S141F|CACNB3_ENST00000547392.1_Missense_Mutation_p.S142F|CACNB3_ENST00000550168.1_3'UTR	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	142					axon guidance (GO:0007411)|calcium ion transport (GO:0006816)|membrane depolarization (GO:0051899)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|membrane (GO:0016020)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GGGAACCCTTCCAGCCTGAGT	0.493																																						uc001rsl.2																			0				autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12						c.(424-426)tCc>tTc		Homo sapiens calcium channel, voltage-dependent, beta 3 subunit (CACNB3), transcript variant 1, mRNA.	Verapamil(DB00661)						49.0	52.0	51.0					12																	49218469		2203	4300	6503	SO:0001583	missense	784				axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr12:49218469C>T		CCDS8769.1, CCDS55821.1, CCDS55822.1, CCDS55823.1	12q13	2008-05-02				ENSG00000167535		"""Calcium channel subunits"""	1403	protein-coding gene	gene with protein product		601958		CACNLB3		8119293	Standard	NM_000725		Approved		uc010sly.2	P54284		ENST00000301050.2:c.425C>T	12.37:g.49218469C>T	ENSP00000301050:p.Ser142Phe					CACNB3_uc010slx.2_Missense_Mutation_p.S129F|CACNB3_uc010sly.2_Missense_Mutation_p.S129F|CACNB3_uc010slz.2_Missense_Mutation_p.S141F|CACNB3_uc001rsk.2_5'UTR|CACNB3_uc021qxm.1_Missense_Mutation_p.S101F	p.S142F	NM_000725	NP_000716	P54284	CACB3_HUMAN			4	884	+			142					A8K0Z4|B7Z4Q1|B7Z973|B7ZAK8|F5GZW7|F5H2P6|F8VSG3|Q13913	Missense_Mutation	SNP	ENST00000301050.2	37	c.425C>T	CCDS8769.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382423	0.61845	.	.	ENSG00000167535	ENST00000540990;ENST00000536187;ENST00000547392;ENST00000301050;ENST00000548279;ENST00000547230	D;D;D;D;T;T	0.83591	-1.65;-1.65;-1.74;-1.65;-1.18;0.77	5.67	5.67	0.87782	Src homology-3 domain (1);	0.057041	0.64402	D	0.000001	D	0.87759	0.6258	M	0.80183	2.485	0.50632	D	0.999885	P;P;P;P	0.41569	0.755;0.755;0.61;0.641	P;P;B;B	0.48141	0.568;0.568;0.076;0.365	D	0.88823	0.3300	10	0.66056	D	0.02	-14.2154	15.2535	0.73568	0.0:1.0:0.0:0.0	.	141;129;129;142	F5GZW7;F5H2P6;B7Z6T5;P54284	.;.;.;CACB3_HUMAN	F	129;141;142;142;141;101	ENSP00000445495:S129F;ENSP00000444160:S141F;ENSP00000446529:S142F;ENSP00000301050:S142F;ENSP00000449497:S141F;ENSP00000448304:S101F	ENSP00000301050:S142F	S	+	2	0	CACNB3	47504736	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.810000	0.62598	2.686000	0.91538	0.655000	0.94253	TCC		0.493	CACNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408886.1		
LOC645752	645752	broad.mit.edu	37	15	78207569	78207569	+	lincRNA	SNP	G	G	A	rs56314252	byFrequency	TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr15:78207569G>A	ENST00000565869.1	+	0	0				RN7SL214P_ENST00000487317.2_RNA																							GATCTGCTGTGCAGTGGGGTT	0.572																																						uc010bky.2																			0											c.(1342-1344)gCa>gTa		Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA.																																						645752							g.chr15:78207569G>A																													15.37:g.78207569G>A						LOC645752_uc010umq.1_Missense_Mutation_p.A95V|DQ572823_uc002bcw.1_5'Flank|DQ582073_uc002bcx.1_5'Flank	p.A448V							17	2107	-									Missense_Mutation	SNP	ENST00000565869.1	37	c.1343C>T																																																																																					0.572	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1		
TP53	7157	broad.mit.edu	37	17	7578217	7578217	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr17:7578217G>A	ENST00000269305.4	-	6	821	c.632C>T	c.(631-633)aCt>aTt	p.T211I	TP53_ENST00000445888.2_Missense_Mutation_p.T211I|TP53_ENST00000359597.4_Missense_Mutation_p.T211I|TP53_ENST00000455263.2_Missense_Mutation_p.T211I|TP53_ENST00000413465.2_Missense_Mutation_p.T211I|TP53_ENST00000420246.2_Missense_Mutation_p.T211I|TP53_ENST00000574684.1_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	211	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> N (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.T211I(7)|p.?(5)|p.T211N(4)|p.R209fs*35(2)|p.T211fs*4(2)|p.D208fs*1(1)|p.R209_R213delRNTFR(1)|p.T211fs*28(1)|p.D207_R213delDDRNTFR(1)|p.D207_V216del10(1)|p.T211_S215delTFRHS(1)|p.T211S(1)|p.R209fs*6(1)|p.T211fs*5(1)|p.D208_V216delDRNTFRHSV(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGTCGAAAAGTGTTTCTGTC	0.532		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		38	Substitution - Missense(12)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(5)|Unknown(5)|Insertion - Frameshift(1)	p.T211I(14)|p.T211T(9)|p.0?(8)|p.T211N(8)|p.T211fs*4(5)|p.?(5)|p.N210fs*37(4)|p.T211fs*5(3)|p.D207_R213delDDRNTFR(2)|p.R209fs*35(2)|p.T211fs*36(2)|p.T211_S215delTFRHS(2)|p.D208_V216delDRNTFRHSV(2)|p.N210S(2)|p.R209_R213delRNTFR(2)|p.T211A(2)|p.T211fs*28(2)|p.D207_V216del10(2)|p.T211S(2)|p.K164_P219del(1)|p.N210D(1)|p.E204_N210delEYLDDRN(1)|p.T211_F212insX(1)|p.D208fs*1(1)|p.N210fs*7(1)|p.N210N(1)|p.N210H(1)|p.N210K(1)|p.N210T(1)|p.T211P(1)|p.R209fs*6(1)	biliary_tract(5)|central_nervous_system(5)|bone(5)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|large_intestine(3)|stomach(2)|oesophagus(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|urinary_tract(1)|liver(1)|skin(1)|lung(1)|ovary(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(631-633)aCt>aTt	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							141.0	125.0	130.0					17																	7578217		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578217G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.632C>T	17.37:g.7578217G>A	ENSP00000269305:p.Thr211Ile	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.T211I|TP53_uc002gih.3_Missense_Mutation_p.T211I|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.T79I|TP53_uc010cnf.1_Missense_Mutation_p.T79I|TP53_uc002gii.1_Missense_Mutation_p.T79I|TP53_uc010cni.1_Missense_Mutation_p.T211I|TP53_uc010cnh.1_Missense_Mutation_p.T211I|TP53_uc002gij.2_Missense_Mutation_p.T211I|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.T118I|TP53_uc002gio.2_Missense_Mutation_p.T79I|TP53_uc010vug.2_Missense_Mutation_p.T172I|DL476358_uc021tph.1_5'Flank	p.T211I	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	826	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	211		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> N (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.632C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	36	5.856746	0.97030	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99795	-6.78;-6.78;-6.78;-6.78;-6.78;-6.78;-6.78;-6.78	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99796	0.9913	M	0.88450	2.955	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.967;0.993;0.997;0.998;1.0	D;D;P;D;D;D;D	0.83275	0.996;0.992;0.866;0.953;0.992;0.99;0.992	D	0.97163	0.9839	10	0.87932	D	0	-10.3896	17.0767	0.86588	0.0:0.0:1.0:0.0	.	172;211;211;118;211;211;211	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	I	211;211;211;211;211;211;200;118;79;118;79	ENSP00000410739:T211I;ENSP00000352610:T211I;ENSP00000269305:T211I;ENSP00000398846:T211I;ENSP00000391127:T211I;ENSP00000391478:T211I;ENSP00000425104:T79I;ENSP00000423862:T118I	ENSP00000269305:T211I	T	-	2	0	TP53	7518942	1.000000	0.71417	0.118000	0.21660	0.884000	0.51177	7.961000	0.87903	2.702000	0.92279	0.655000	0.94253	ACT		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
DNAH9	1770	broad.mit.edu	37	17	11672470	11672470	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr17:11672470G>A	ENST00000262442.4	+	38	7444	c.7376G>A	c.(7375-7377)cGt>cAt	p.R2459H	DNAH9_ENST00000454412.2_Missense_Mutation_p.R2459H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2459	AAA 3. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAGACCATCCGTGTGTGCTAC	0.612																																						uc002gne.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(7375-7377)cGt>cAt		Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.							100.0	95.0	97.0					17																	11672470		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11672470G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7376G>A	17.37:g.11672470G>A	ENSP00000262442:p.Arg2459His					DNAH9_uc010coo.3_Missense_Mutation_p.R1753H	p.R2459H	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	37	7444	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2459			AAA 3 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.7376G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190220	0.78789	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.51071	0.72;0.72	5.77	5.77	0.91146	.	0.153660	0.43919	D	0.000507	D	0.83783	0.5329	H	0.99464	4.58	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.90643	0.4576	10	0.87932	D	0	.	19.9873	0.97353	0.0:0.0:1.0:0.0	.	2459	Q9NYC9	DYH9_HUMAN	H	2459;2459;1041	ENSP00000262442:R2459H;ENSP00000414874:R2459H	ENSP00000262442:R2459H	R	+	2	0	DNAH9	11613195	1.000000	0.71417	0.954000	0.39281	0.358000	0.29455	6.730000	0.74780	2.732000	0.93576	0.655000	0.94253	CGT		0.612	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
MIEF2	125170	broad.mit.edu	37	17	18167560	18167560	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr17:18167560A>G	ENST00000323019.4	+	4	1058	c.847A>G	c.(847-849)Atg>Gtg	p.M283V	MIEF2_ENST00000395704.4_3'UTR|MIEF2_ENST00000395706.2_Missense_Mutation_p.M294V	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	283					mitochondrion organization (GO:0007005)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)											CCGGCCCAGCATGGCCTCGGA	0.667																																						uc010vxq.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9						c.(880-882)Atg>Gtg		Homo sapiens Smith-Magenis syndrome chromosome region, candidate 7 (SMCR7), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.							35.0	36.0	36.0					17																	18167560		2203	4300	6503	SO:0001583	missense	125170					integral to membrane	protein binding	g.chr17:18167560A>G	BC014973	CCDS11193.1, CCDS45624.1, CCDS45625.1	17p11.2	2013-09-23	2013-09-23	2013-09-23	ENSG00000177427	ENSG00000177427			17920	protein-coding gene	gene with protein product		615498	"""Smith-Magenis syndrome chromosome region, candidate 7"""	SMCR7		11997338, 21508961	Standard	NM_001144900		Approved	MGC23130, MiD49	uc010vxq.2	Q96C03	OTTHUMG00000059392	ENST00000323019.4:c.847A>G	17.37:g.18167560A>G	ENSP00000323591:p.Met283Val					SMCR7_uc002gsu.3_3'UTR|SMCR7_uc002gst.3_Missense_Mutation_p.M283V	p.M294V	NM_148886	NP_631901	Q96C03	SMCR7_HUMAN			3	906	+	all_neural(463;0.228)		283					J3KPT3|Q6ZRD4|Q96N07	Missense_Mutation	SNP	ENST00000323019.4	37	c.880A>G	CCDS11193.1	.	.	.	.	.	.	.	.	.	.	A	0	-2.634968	0.00114	.	.	ENSG00000177427	ENST00000323019;ENST00000395706	T;T	0.09163	3.01;3.01	5.45	2.17	0.27698	.	0.340781	0.31922	N	0.006860	T	0.01835	0.0058	N	0.00317	-1.655	0.20403	N	0.999909	B	0.02656	0.0	B	0.01281	0.0	T	0.44802	-0.9304	10	0.02654	T	1	-17.6844	5.4208	0.16400	0.292:0.1357:0.5723:0.0	.	283	Q96C03	MID49_HUMAN	V	283;294	ENSP00000323591:M283V;ENSP00000379057:M294V	ENSP00000323591:M283V	M	+	1	0	SMCR7	18108285	0.992000	0.36948	0.381000	0.26106	0.026000	0.11368	2.112000	0.41892	0.264000	0.21851	-1.601000	0.00813	ATG		0.667	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132060.2	NM_139162	
CCDC144NL	339184	broad.mit.edu	37	17	20799291	20799291	+	Missense_Mutation	SNP	A	A	C			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr17:20799291A>C	ENST00000327925.5	-	1	162	c.43T>G	c.(43-45)Tct>Gct	p.S15A	RP11-344E13.3_ENST00000417232.2_RNA|RNU6-1178P_ENST00000516674.1_RNA|RP11-344E13.3_ENST00000577537.1_RNA|RP11-344E13.3_ENST00000582324.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	15										large_intestine(3)|lung(3)|skin(1)	7						GGCTTCGGAGACCCCCCAGCC	0.647											OREG0024248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002gyf.3																			0				large_intestine(3)|lung(3)|skin(1)	7						c.(43-45)Tct>Gct		Homo sapiens coiled-coil domain containing 144 family, N-terminal like (CCDC144NL), mRNA.							27.0	29.0	29.0					17																	20799291		2203	4300	6503	SO:0001583	missense	339184							g.chr17:20799291A>C		CCDS32591.1	17p11.2	2009-01-15			ENSG00000205212	ENSG00000205212			33735	protein-coding gene	gene with protein product							Standard	NM_001004306		Approved	MGC87631	uc002gyf.3	Q6NUI1	OTTHUMG00000132271	ENST00000327925.5:c.43T>G	17.37:g.20799291A>C	ENSP00000328054:p.Ser15Ala		OREG0024248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	743	AK057473_uc002gyg.1_Intron|AK057473_uc002gyh.1_Intron	p.S15A	NM_001004306	NP_001004306	Q6NUI1	C144L_HUMAN			0	163	-			15						Missense_Mutation	SNP	ENST00000327925.5	37	c.43T>G	CCDS32591.1	.	.	.	.	.	.	.	.	.	.	a	12.35	1.912783	0.33721	.	.	ENSG00000205212	ENST00000327925	T	0.27256	1.68	0.87	0.87	0.19102	.	.	.	.	.	T	0.18635	0.0447	N	0.24115	0.695	0.09310	N	1	P	0.41597	0.756	P	0.45037	0.467	T	0.14727	-1.0462	9	0.72032	D	0.01	.	4.0705	0.09880	1.0:0.0:0.0:0.0	.	15	Q6NUI1	C144L_HUMAN	A	15	ENSP00000328054:S15A	ENSP00000328054:S15A	S	-	1	0	CCDC144NL	20739883	0.014000	0.17966	0.002000	0.10522	0.084000	0.17831	0.271000	0.18626	0.674000	0.31244	0.228000	0.17796	TCT		0.647	CCDC144NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255361.2	NM_001004306	
KIF2B	84643	broad.mit.edu	37	17	51900492	51900492	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr17:51900492C>T	ENST00000268919.4	+	1	254	c.98C>T	c.(97-99)gCg>gTg	p.A33V		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	33					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATCTACGTGGCGATCCAGCGC	0.552																																						uc002iua.2																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(97-99)gCg>gTg		Homo sapiens kinesin family member 2B (KIF2B), mRNA.							127.0	105.0	112.0					17																	51900492		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51900492C>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.98C>T	17.37:g.51900492C>T	ENSP00000268919:p.Ala33Val						p.A33V	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			0	254	+			33					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.98C>T	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	5.396	0.258268	0.10239	.	.	ENSG00000141200	ENST00000268919	T	0.74002	-0.8	4.96	-0.795	0.10915	.	0.501568	0.16531	N	0.210347	T	0.50599	0.1625	L	0.39898	1.24	0.25215	N	0.98994	P	0.44044	0.825	B	0.34489	0.184	T	0.44877	-0.9299	10	0.25751	T	0.34	.	0.765	0.01013	0.2039:0.3953:0.1365:0.2643	.	33	Q8N4N8	KIF2B_HUMAN	V	33	ENSP00000268919:A33V	ENSP00000268919:A33V	A	+	2	0	KIF2B	49255491	0.988000	0.35896	0.021000	0.16686	0.016000	0.09150	2.721000	0.47260	0.091000	0.17302	-0.137000	0.14449	GCG		0.552	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559	
ENPP7	339221	broad.mit.edu	37	17	77705154	77705154	+	Splice_Site	SNP	G	G	A	rs150916536		TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr17:77705154G>A	ENST00000328313.5	+	1	474	c.253G>A	c.(253-255)Ggc>Agc	p.G85S		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCTGGTCACCGGTGAGTACTG	0.647																																						uc002jxa.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34						c.e1+1		Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA.		G	SER/GLY	0,4404		0,0,2202	28.0	26.0	27.0		253	2.4	0.6	17	dbSNP_134	27	2,8598	1.2+/-3.3	0,2,4298	no	missense-near-splice	ENPP7	NM_178543.3	56	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	85/459	77705154	2,13002	2202	4300	6502	SO:0001630	splice_region_variant	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77705154G>A	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"""alkaline sphingomyelinase"""					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.253+1G>A	17.37:g.77705154G>A							p.G85_splice	NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		1	273	+			85						Missense_Mutation	SNP	ENST00000328313.5	37	c.253_splice	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655060	0.67472	0.0	2.33E-4	ENSG00000182156	ENST00000328313	D	0.97066	-4.23	4.36	2.37	0.29283	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.115885	0.64402	D	0.000016	D	0.98741	0.9577	H	0.96970	3.915	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.98266	1.0501	10	0.87932	D	0	-33.4291	9.6104	0.39659	0.1721:0.0:0.8279:0.0	.	85	Q6UWV6	ENPP7_HUMAN	S	85	ENSP00000332656:G85S	ENSP00000332656:G85S	G	+	1	0	ENPP7	75319749	1.000000	0.71417	0.623000	0.29173	0.355000	0.29361	7.642000	0.83385	0.474000	0.27392	0.561000	0.74099	GGC		0.647	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543	Missense_Mutation
CELF5	60680	broad.mit.edu	37	19	3282231	3282231	+	Silent	SNP	C	C	T	rs200411650		TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr19:3282231C>T	ENST00000292672.2	+	7	895	c.858C>T	c.(856-858)aaC>aaT	p.N286N	CELF5_ENST00000541430.2_Silent_p.N286N	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	286					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						TCAGCCTCAACGGGCTGCCTG	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		18102	0.0		0.0	False		,,,				2504	0.001					uc002lxm.3																			0				kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						c.(856-858)aaC>aaT		Homo sapiens CUGBP, Elav-like family member 5 (CELF5), transcript variant 1, mRNA.		C	,	0,4406		0,0,2203	50.0	44.0	46.0		858,858	-6.2	0.8	19		46	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	CELF5	NM_001172673.1,NM_021938.3	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	286/410,286/486	3282231	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	60680				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:3282231C>T	AF248649	CCDS12106.1, CCDS54197.1	19p13	2013-02-12	2010-02-19	2010-02-19		ENSG00000161082		"""RNA binding motif (RRM) containing"""	14058	protein-coding gene	gene with protein product		612680	"""Bruno (Drosophila) -like 5, RNA binding protein"", ""bruno-like 5, RNA binding protein (Drosophila)"""	BRUNOL5		10893231	Standard	NM_001172673		Approved		uc002lxm.3	Q8N6W0		ENST00000292672.2:c.858C>T	19.37:g.3282231C>T						CELF5_uc010dtj.2_Silent_p.N286N|CELF5_uc002lxl.2_Silent_p.N286N|CELF5_uc010xhg.2_Non-coding_Transcript|CELF5_uc002lxn.3_Non-coding_Transcript	p.N286N	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN			6	895	+			286					D6W614|O75253|Q59GP2|Q86VW6|Q9BZC0|Q9NR86	Silent	SNP	ENST00000292672.2	37	c.858C>T	CCDS12106.1																																																																																				0.647	CELF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452574.1	NM_021938	
OR7A10	390892	broad.mit.edu	37	19	14951969	14951969	+	Missense_Mutation	SNP	A	A	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr19:14951969A>T	ENST00000248058.1	-	1	720	c.721T>A	c.(721-723)Tgt>Agt	p.C241S		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					TGAGATGCACAGGTGGAAAAT	0.488																																						uc002mzx.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19						c.(721-723)Tgt>Agt		Homo sapiens olfactory receptor, family 7, subfamily A, member 10 (OR7A10), mRNA.							103.0	86.0	92.0					19																	14951969		2203	4300	6503	SO:0001583	missense	390892				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14951969A>T		CCDS32936.1	19p13.1	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8356	protein-coding gene	gene with protein product							Standard	NM_001005190		Approved		uc002mzx.1	O76100		ENST00000248058.1:c.721T>A	19.37:g.14951969A>T	ENSP00000248058:p.Cys241Ser						p.C241S	NM_001005190	NP_001005190	O76100	OR7AA_HUMAN			0	721	-	Ovarian(108;0.203)		241					Q6IFP0|Q96R97	Missense_Mutation	SNP	ENST00000248058.1	37	c.721T>A	CCDS32936.1	.	.	.	.	.	.	.	.	.	.	a	14.74	2.626017	0.46840	.	.	ENSG00000127515	ENST00000248058	T	0.00369	7.74	2.75	2.75	0.32379	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	U	0.000662	T	0.01353	0.0044	H	0.98901	4.365	0.31856	N	0.621643	P	0.51449	0.945	P	0.57152	0.814	T	0.00770	-1.1573	10	0.72032	D	0.01	.	9.0825	0.36561	1.0:0.0:0.0:0.0	.	241	O76100	OR7AA_HUMAN	S	241	ENSP00000248058:C241S	ENSP00000248058:C241S	C	-	1	0	OR7A10	14812969	1.000000	0.71417	0.592000	0.28758	0.500000	0.33767	5.885000	0.69736	1.301000	0.44836	0.113000	0.15668	TGT		0.488	OR7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466520.1	NM_001005190	
ZNF208	7757	broad.mit.edu	37	19	22156724	22156724	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr19:22156724C>T	ENST00000397126.4	-	4	1260	c.1112G>A	c.(1111-1113)tGt>tAt	p.C371Y	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	371					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GCATTCTTCACATTTGTAGGG	0.383																																						uc021urr.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(1111-1113)tGt>tAt		Homo sapiens zinc finger protein 208 (ZNF208), mRNA.							38.0	41.0	40.0					19																	22156724		2067	4220	6287	SO:0001583	missense	7757							g.chr19:22156724C>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1112G>A	19.37:g.22156724C>T	ENSP00000380315:p.Cys371Tyr					ZNF208_uc002nqo.1_Intron	p.C371Y	NM_007153	NP_009084					3	1261	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.1112G>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257874	0.39896	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	D	0.85088	-1.94	2.65	2.65	0.31530	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.91109	0.7201	.	.	.	0.29971	N	0.818573	D	0.89917	1.0	D	0.91635	0.999	D	0.86400	0.1741	8	0.87932	D	0	.	11.9818	0.53123	0.0:1.0:0.0:0.0	.	371	O43345	ZN208_HUMAN	Y	371	ENSP00000380315:C371Y	ENSP00000380315:C371Y	C	-	2	0	ZNF208	21948564	0.297000	0.24408	0.004000	0.12327	0.033000	0.12548	2.129000	0.42055	1.034000	0.39945	0.306000	0.20318	TGT		0.383	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153	
KLK6	5653	broad.mit.edu	37	19	51466663	51466663	+	Missense_Mutation	SNP	G	G	A	rs200194649		TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr19:51466663G>A	ENST00000376851.3	-	4	779	c.340C>T	c.(340-342)Cgc>Tgc	p.R114C	KLK6_ENST00000391808.1_Missense_Mutation_p.R7C|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000456750.2_Missense_Mutation_p.R7C|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000310157.2_Missense_Mutation_p.R114C|KLK6_ENST00000594641.1_Missense_Mutation_p.R114C	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	114	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amyloid precursor protein metabolic process (GO:0042982)|central nervous system development (GO:0007417)|collagen catabolic process (GO:0030574)|hormone metabolic process (GO:0042445)|myelination (GO:0042552)|neuron death (GO:0070997)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|protein autoprocessing (GO:0016540)|regulation of cell differentiation (GO:0045595)|regulation of neuron projection development (GO:0010975)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		TTGGCTGGGCGTGCCAGGCGC	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		19103	0.001		0.0	False		,,,				2504	0.0					uc002puh.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13						c.(367-369)Cgc>Tgc		Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA.							90.0	63.0	72.0					19																	51466663		2203	4300	6503	SO:0001583	missense	5653				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity	g.chr19:51466663G>A	U62801	CCDS12811.1, CCDS42599.1	19q13.3	2011-09-07	2006-10-27			ENSG00000167755		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6367	protein-coding gene	gene with protein product		602652	"""protease, serine, 18"", ""kallikrein 6 (neurosin, zyme)"""	PRSS9, PRSS18		9003450, 16800724, 16800723	Standard	NM_002774		Approved	Bssp, Klk7, neurosin	uc002pui.3	Q92876		ENST00000376851.3:c.340C>T	19.37:g.51466663G>A	ENSP00000366047:p.Arg114Cys					KLK6_uc010eoj.3_Intron|KLK6_uc002pui.3_Missense_Mutation_p.R114C|KLK6_uc002puj.3_Missense_Mutation_p.R7C|KLK6_uc010ycn.2_Missense_Mutation_p.R7C|KLK6_uc002pul.3_Missense_Mutation_p.R114C|KLK6_uc002pum.3_Missense_Mutation_p.R7C	p.R123C	NM_001012965	NP_001012983	Q92876	KLK6_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)	2	432	-		all_neural(266;0.026)	114			Peptidase S1.		A6NJA1|A8MW09|Q6H301	Missense_Mutation	SNP	ENST00000376851.3	37	c.367C>T	CCDS12811.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	N	21.4	4.142177	0.77775	.	.	ENSG00000167755	ENST00000310157;ENST00000376851;ENST00000391808;ENST00000456750	D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51	4.49	2.31	0.28768	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.587110	0.03919	N	0.283130	D	0.91489	0.7313	L	0.58354	1.805	0.09310	N	0.999998	B;D	0.69078	0.34;0.997	B;P	0.56648	0.2;0.803	T	0.76410	-0.2969	10	0.87932	D	0	.	7.2478	0.26131	0.0927:0.0:0.7398:0.1674	.	114;7	Q92876;Q92876-2	KLK6_HUMAN;.	C	114;114;7;7	ENSP00000309148:R114C;ENSP00000366047:R114C;ENSP00000375684:R7C;ENSP00000409241:R7C	ENSP00000309148:R114C	R	-	1	0	KLK6	56158475	0.000000	0.05858	0.001000	0.08648	0.637000	0.38172	-0.588000	0.05774	0.498000	0.27948	0.486000	0.48141	CGC		0.612	KLK6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465060.1	NM_002774	
NLRP11	204801	broad.mit.edu	37	19	56320357	56320357	+	Missense_Mutation	SNP	G	G	A	rs374796362		TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr19:56320357G>A	ENST00000589093.1	-	3	1712	c.1619C>T	c.(1618-1620)aCg>aTg	p.T540M	NLRP11_ENST00000589824.2_Missense_Mutation_p.T540M|NLRP11_ENST00000592953.1_Missense_Mutation_p.T441M|NLRP11_ENST00000360133.3_Missense_Mutation_p.T540M|NLRP11_ENST00000443188.1_Missense_Mutation_p.T540M			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	540							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)	p.T540M(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CATATGGTGCGTCAACTTTTC	0.448																																						uc010ygf.2																			2	Substitution - Missense(2)	p.T540M(4)	large_intestine(1)|lung(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66						c.(1618-1620)aCg>aTg		Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.		G	MET/THR	0,4406		0,0,2203	163.0	151.0	155.0		1619	-4.0	0.0	19		155	1,8599	1.2+/-3.3	0,1,4299	no	missense	NLRP11	NM_145007.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	540/1034	56320357	1,13005	2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56320357G>A	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.1619C>T	19.37:g.56320357G>A	ENSP00000466285:p.Thr540Met					NLRP11_uc002qlz.3_Missense_Mutation_p.T441M|NLRP11_uc002qmb.3_Missense_Mutation_p.T441M|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	p.T540M	NM_145007	NP_659444	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	4	2330	-		Colorectal(82;0.0002)	540					C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.1619C>T	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	G	2.480	-0.319809	0.05386	0.0	1.16E-4	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.74002	-0.8;-0.74	1.99	-3.99	0.04069	.	.	.	.	.	T	0.51176	0.1659	N	0.22421	0.69	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.17098	0.007;0.017	T	0.24870	-1.0148	9	0.37606	T	0.19	.	0.2614	0.00219	0.3264:0.2693:0.1804:0.224	.	540;540	P59045;P59045-2	NAL11_HUMAN;.	M	540	ENSP00000409898:T540M;ENSP00000353251:T540M	ENSP00000353251:T540M	T	-	2	0	NLRP11	61012169	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.189000	0.00277	-1.949000	0.01031	-1.153000	0.01818	ACG		0.448	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007	
IL36A	27179	broad.mit.edu	37	2	113764258	113764258	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr2:113764258C>T	ENST00000259211.6	+	3	619	c.208C>T	c.(208-210)Ctc>Ttc	p.L70F		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	70					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-1 receptor binding (GO:0005149)			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						CCTGAATGGACTCAATCTCTG	0.512																																						uc010yxr.2																			0				large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						c.(208-210)Ctc>Ttc		Homo sapiens interleukin 36, alpha (IL36A), mRNA.							197.0	203.0	201.0					2																	113764258		1993	4145	6138	SO:0001583	missense	27179				immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding	g.chr2:113764258C>T	AF201831	CCDS42734.1	2q12-q14.1	2011-07-14	2011-06-06	2011-06-06	ENSG00000136694	ENSG00000136694		"""Interleukins and interleukin receptors"""	15562	protein-coding gene	gene with protein product		605509	"""interleukin 1 family, member 6 (epsilon)"""	IL1F6		10625660	Standard	XM_005263639		Approved	FIL1, FIL1E, IL-1F6, IL1(EPSILON), MGC129553, MGC129552	uc010yxr.2	Q9UHA7	OTTHUMG00000153320	ENST00000259211.6:c.208C>T	2.37:g.113764258C>T	ENSP00000259211:p.Leu70Phe						p.L70F	NM_014440	NP_055255	Q9UHA7	IL36A_HUMAN			2	208	+			70					B2RAD9|Q53SR7|Q5BLR4|Q7RTZ8	Missense_Mutation	SNP	ENST00000259211.6	37	c.208C>T	CCDS42734.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.650250	0.47362	.	.	ENSG00000136694	ENST00000259211	T	0.17054	2.3	5.11	2.01	0.26516	.	0.499030	0.18454	N	0.140737	T	0.07234	0.0183	N	0.08118	0	0.09310	N	1	P	0.34412	0.453	B	0.35813	0.211	T	0.21793	-1.0235	10	0.33940	T	0.23	-8.1702	3.1539	0.06498	0.1755:0.5528:0.1703:0.1013	.	70	Q9UHA7	IL36A_HUMAN	F	70	ENSP00000259211:L70F	ENSP00000259211:L70F	L	+	1	0	IL36A	113480729	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.136000	0.10405	0.636000	0.30508	0.591000	0.81541	CTC		0.512	IL36A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330711.1	NM_014440	
ZAK	51776	broad.mit.edu	37	2	174131096	174131096	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr2:174131096C>T	ENST00000375213.3	+	20	2099	c.2021C>T	c.(2020-2022)tCa>tTa	p.S674L	MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.S674L|MLK7-AS1_ENST00000423106.2_RNA	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		674					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										GGTCGATACTCAGACAGAAGC	0.448																																						uc002uhz.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(2020-2022)tCa>tTa		Homo sapiens sterile alpha motif and leucine zipper containing kinase AZK (ZAK), transcript variant 1, mRNA.							98.0	100.0	99.0					2																	174131096		1916	4126	6042	SO:0001583	missense	51776				calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding	g.chr2:174131096C>T																												ENST00000375213.3:c.2021C>T	2.37:g.174131096C>T	ENSP00000364361:p.Ser674Leu					MLK7-AS1_uc002uib.3_Intron	p.S674L	NM_016653	NP_057737	Q14206	RCAN2_HUMAN			19	2221	+			0					B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	ENST00000375213.3	37	c.2021C>T	CCDS42777.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082305	0.55861	.	.	ENSG00000091436	ENST00000409176;ENST00000375213	T;T	0.74421	-0.84;-0.84	5.86	4.98	0.66077	.	0.474854	0.23132	N	0.051565	T	0.56863	0.2014	N	0.14661	0.345	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.54662	-0.8260	10	0.49607	T	0.09	.	10.112	0.42568	0.1382:0.7914:0.0:0.0705	.	674	Q9NYL2	MLTK_HUMAN	L	674	ENSP00000387259:S674L;ENSP00000364361:S674L	ENSP00000364361:S674L	S	+	2	0	AC013461.1	173839342	0.230000	0.23740	0.967000	0.41034	0.953000	0.61014	1.800000	0.38833	2.781000	0.95711	0.591000	0.81541	TCA		0.448	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1		
ACADL	33	broad.mit.edu	37	2	211070506	211070506	+	Silent	SNP	A	A	G			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr2:211070506A>G	ENST00000233710.3	-	6	845	c.618T>C	c.(616-618)aaT>aaC	p.N206N	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	206					carnitine catabolic process (GO:0042413)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid catabolic process (GO:0044242)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|long-chain fatty acid catabolic process (GO:0042758)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|palmitoyl-CoA oxidase activity (GO:0016401)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		TTAATGACCCATTACTGATGA	0.388																																						uc002vdz.4																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						c.(616-618)aaT>aaC		Homo sapiens acyl-CoA dehydrogenase, long chain (ACADL), nuclear gene encoding mitochondrial protein, mRNA.							125.0	116.0	119.0					2																	211070506		2203	4300	6503	SO:0001819	synonymous_variant	33				carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity	g.chr2:211070506A>G	M74096	CCDS2389.1	2q34	2012-07-13	2010-04-30		ENSG00000115361	ENSG00000115361	1.3.99.13		88	protein-coding gene	gene with protein product		609576	"""acyl-Coenzyme A dehydrogenase, long chain"""			1774065	Standard	NM_001608		Approved	LCAD, ACAD4	uc002vdz.4	P28330	OTTHUMG00000132989	ENST00000233710.3:c.618T>C	2.37:g.211070506A>G							p.N206N	NM_001608	NP_001599	P28330	ACADL_HUMAN		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)	5	846	-		Renal(323;0.202)	206					B2R8T3|Q8IUN8	Silent	SNP	ENST00000233710.3	37	c.618T>C	CCDS2389.1																																																																																				0.388	ACADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256561.2	NM_001608	
DIDO1	11083	broad.mit.edu	37	20	61512320	61512320	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr20:61512320G>A	ENST00000266070.4	-	16	5313	c.4988C>T	c.(4987-4989)cCg>cTg	p.P1663L	DIDO1_ENST00000395343.1_Missense_Mutation_p.P1663L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1663					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCCGCAAGGCGGTGTGGGCAG	0.731																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.2																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(4987-4989)cCg>cTg		Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.							11.0	13.0	12.0					20																	61512320		2175	4250	6425	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512320G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4988C>T	20.37:g.61512320G>A	ENSP00000266070:p.Pro1663Leu					DIDO1_uc002yds.2_Missense_Mutation_p.P1663L	p.P1663L	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN			15	5300	-	Breast(26;5.68e-08)		1663					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.4988C>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488224	0.64074	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.23950	1.88;1.88	5.31	5.31	0.75309	.	0.000000	0.42821	D	0.000644	T	0.35941	0.0949	L	0.36672	1.1	0.80722	D	1	D	0.71674	0.998	P	0.53689	0.732	T	0.12630	-1.0540	10	0.87932	D	0	-26.6638	18.9695	0.92709	0.0:0.0:1.0:0.0	.	1663	Q9BTC0	DIDO1_HUMAN	L	1663	ENSP00000266070:P1663L;ENSP00000378752:P1663L	ENSP00000266070:P1663L	P	-	2	0	DIDO1	60982765	1.000000	0.71417	0.443000	0.26883	0.145000	0.21501	6.992000	0.76238	2.456000	0.83038	0.655000	0.94253	CCG		0.731	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796	
PLA2G3	50487	broad.mit.edu	37	22	31534350	31534350	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr22:31534350C>T	ENST00000215885.3	-	3	946	c.694G>A	c.(694-696)Gtg>Atg	p.V232M		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	232	Phospholipase A2-like.				acrosome assembly (GO:0001675)|cilium morphogenesis (GO:0060271)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lipoxygenase pathway (GO:0019372)|mast cell degranulation (GO:0043303)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|sperm axoneme assembly (GO:0007288)	centriole (GO:0005814)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						GCCACGCCCACGATGTCCGAG	0.617																																						uc003aka.3																			0				large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						c.(694-696)Gtg>Atg		Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.							82.0	64.0	70.0					22																	31534350		2203	4300	6503	SO:0001583	missense	50487				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity	g.chr22:31534350C>T	AF220490	CCDS13889.1	22q12.2	2008-09-19			ENSG00000100078	ENSG00000100078	3.1.1.4		17934	protein-coding gene	gene with protein product		611651				10713052	Standard	NM_015715		Approved	GIII-SPLA2	uc003aka.3	Q9NZ20	OTTHUMG00000151255	ENST00000215885.3:c.694G>A	22.37:g.31534350C>T	ENSP00000215885:p.Val232Met						p.V232M	NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN			2	823	-			232			Phospholipase A2-like.		O95768	Missense_Mutation	SNP	ENST00000215885.3	37	c.694G>A	CCDS13889.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.010016	0.54361	.	.	ENSG00000100078	ENST00000215885	T	0.35605	1.3	5.32	3.23	0.37069	Phospholipase A2 (3);	0.120957	0.56097	N	0.000038	T	0.31389	0.0795	L	0.48260	1.515	0.34462	D	0.701853	D	0.57571	0.98	P	0.45639	0.488	T	0.41716	-0.9493	10	0.28530	T	0.3	-1.9492	8.2113	0.31486	0.0:0.6852:0.0:0.3148	.	232	Q9NZ20	PA2G3_HUMAN	M	232	ENSP00000215885:V232M	ENSP00000215885:V232M	V	-	1	0	PLA2G3	29864350	0.118000	0.22208	0.752000	0.31206	0.968000	0.65278	0.525000	0.22956	0.721000	0.32231	0.561000	0.74099	GTG		0.617	PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321938.1	NM_015715	
TTLL12	23170	broad.mit.edu	37	22	43575872	43575872	+	Nonsense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr22:43575872C>T	ENST00000216129.6	-	4	744	c.681G>A	c.(679-681)tgG>tgA	p.W227*		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	227					cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				CCCTCAGGGGCCACAGCAGCG	0.672																																						uc003bdq.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13						c.(679-681)tgG>tgA		Homo sapiens tubulin tyrosine ligase-like family, member 12 (TTLL12), mRNA.							44.0	40.0	41.0					22																	43575872		2203	4300	6503	SO:0001587	stop_gained	23170				protein modification process		tubulin-tyrosine ligase activity	g.chr22:43575872C>T	D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"""Tubulin tyrosine ligase-like family"""	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.681G>A	22.37:g.43575872C>T	ENSP00000216129:p.Trp227*						p.W227*	NM_015140	NP_055955	Q14166	TTL12_HUMAN			3	743	-		Ovarian(80;0.221)|Glioma(61;0.222)	227					Q20WK5|Q9UGU3	Nonsense_Mutation	SNP	ENST00000216129.6	37	c.681G>A	CCDS14047.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.034939	0.93575	.	.	ENSG00000100304	ENST00000216129;ENST00000423379	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.7125	19.5034	0.95105	0.0:1.0:0.0:0.0	.	.	.	.	X	227	.	ENSP00000216129:W227X	W	-	3	0	TTLL12	41905816	1.000000	0.71417	1.000000	0.80357	0.197000	0.23852	7.359000	0.79477	2.593000	0.87608	0.655000	0.94253	TGG		0.672	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319611.1	NM_015140	
CELSR1	9620	broad.mit.edu	37	22	46931874	46931874	+	Silent	SNP	G	G	A			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr22:46931874G>A	ENST00000262738.3	-	1	1193	c.1194C>T	c.(1192-1194)gaC>gaT	p.D398D	CELSR1_ENST00000497509.1_5'Flank|CELSR1_ENST00000395964.1_Silent_p.D398D	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	398	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GCTGGAAGACGTCCCACGCGC	0.682																																						uc003bhw.1																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(1192-1194)gaC>gaT		Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.							25.0	23.0	24.0					22																	46931874		2201	4297	6498	SO:0001819	synonymous_variant	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46931874G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.1194C>T	22.37:g.46931874G>A							p.D398D	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	0	1194	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	398			Cadherin 2.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	c.1194C>T	CCDS14076.1																																																																																				0.682	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246	
NKTR	4820	broad.mit.edu	37	3	42676817	42676817	+	Silent	SNP	A	A	G	rs142015233		TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr3:42676817A>G	ENST00000232978.8	+	12	1310	c.1122A>G	c.(1120-1122)gcA>gcG	p.A374A	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	374					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GATTAAGAGCATATAGACCAC	0.388																																						uc003clo.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41						c.(1120-1122)gcA>gcG		Homo sapiens natural killer-tumor recognition sequence (NKTR), mRNA.		A		0,4406		0,0,2203	95.0	92.0	93.0		1122	-11.7	0.6	3	dbSNP_134	93	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NKTR	NM_005385.3		0,1,6502	GG,GA,AA		0.0116,0.0,0.0077		374/1463	42676817	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42676817A>G		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.1122A>G	3.37:g.42676817A>G						NKTR_uc003clm.1_Silent_p.A121A|NKTR_uc011azp.2_Intron|NKTR_uc003clp.3_Silent_p.A121A|NKTR_uc003clq.1_Silent_p.A264A|NKTR_uc003clr.1_Silent_p.A121A|NKTR_uc003cls.3_Silent_p.A74A	p.A374A	NM_005385	NP_005376	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	11	1269	+			374						Silent	SNP	ENST00000232978.8	37	c.1122A>G	CCDS2702.1																																																																																				0.388	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385	
KBTBD8	84541	broad.mit.edu	37	3	67054666	67054666	+	Silent	SNP	C	C	T	rs183048924	byFrequency	TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr3:67054666C>T	ENST00000417314.2	+	3	1324	c.1275C>T	c.(1273-1275)tgC>tgT	p.C425C	KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000295568.4_Silent_p.C399C			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	425						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		CGACTGTTTGCGCGATGCCAG	0.413													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20296	0.001		0.0	False		,,,				2504	0.0					uc003dmy.3																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20						c.(1273-1275)tgC>tgT		Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA.							190.0	176.0	181.0					3																	67054666		2203	4300	6503	SO:0001819	synonymous_variant	84541							g.chr3:67054666C>T	AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"""BTB/POZ domain containing"""	30691	protein-coding gene	gene with protein product	"""T-cell activation kelch repeat protein"""					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.1275C>T	3.37:g.67054666C>T						KBTBD8_uc011bfv.2_Intron	p.C425C	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)	2	1328	+		Lung NSC(201;0.0765)	425					B4DTW6|Q96JI5	Silent	SNP	ENST00000417314.2	37	c.1275C>T	CCDS2906.2																																																																																				0.413	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	NM_032505	
ROBO1	6091	broad.mit.edu	37	3	78734960	78734960	+	Silent	SNP	G	G	A			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr3:78734960G>A	ENST00000464233.1	-	10	1391	c.1278C>T	c.(1276-1278)taC>taT	p.Y426Y	ROBO1_ENST00000467549.1_Silent_p.Y390Y|ROBO1_ENST00000436010.2_Silent_p.Y387Y|ROBO1_ENST00000495273.1_Silent_p.Y390Y	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	426	Ig-like C2-type 4.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TCTGGCAGATGTAATAACCAA	0.393																																						uc003dqe.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(1276-1278)taC>taT		Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.							69.0	67.0	68.0					3																	78734960		1911	4113	6024	SO:0001819	synonymous_variant	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78734960G>A	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.1278C>T	3.37:g.78734960G>A						ROBO1_uc003dqc.2_Silent_p.Y390Y|ROBO1_uc003dqd.2_Silent_p.Y390Y|ROBO1_uc003dqb.2_Silent_p.Y387Y|ROBO1_uc010hoh.2_5'UTR|ROBO1_uc003dqf.1_Silent_p.Y105Y	p.Y426Y	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	9	1486	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	426			Ig-like C2-type 4.		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Silent	SNP	ENST00000464233.1	37	c.1278C>T	CCDS54611.1																																																																																				0.393	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941	
DNAJB8	165721	broad.mit.edu	37	3	128181904	128181904	+	Missense_Mutation	SNP	C	C	T	rs201659373		TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr3:128181904C>T	ENST00000469083.1	-	2	2742	c.185G>A	c.(184-186)cGc>cAc	p.R62H	DNAJB8_ENST00000319153.3_Missense_Mutation_p.R62H|DNAJB8-AS1_ENST00000471626.1_RNA			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	62	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				chaperone-mediated protein folding (GO:0061077)|negative regulation of inclusion body assembly (GO:0090084)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|protein binding involved in protein folding (GO:0044183)|unfolded protein binding (GO:0051082)			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		ATACAGGGAGCGTTTCTTGGA	0.602																																						uc003ekk.1																			0				kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11						c.(184-186)cGc>cAc		Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 8 (DNAJB8), mRNA.							133.0	133.0	133.0					3																	128181904		2203	4300	6503	SO:0001583	missense	165721				protein folding		heat shock protein binding|unfolded protein binding	g.chr3:128181904C>T		CCDS3048.1	3q21.3	2014-01-21			ENSG00000179407	ENSG00000179407		"""Heat shock proteins / DNAJ (HSP40)"""	23699	protein-coding gene	gene with protein product		611337					Standard	NM_153330		Approved	MGC33884, CT156	uc003ekk.2	Q8NHS0	OTTHUMG00000159690	ENST00000469083.1:c.185G>A	3.37:g.128181904C>T	ENSP00000417418:p.Arg62His					DNAJB8-AS1_uc003ekl.1_5'Flank|DNAJB8_uc021xdk.1_Missense_Mutation_p.R62H	p.R62H	NM_153330	NP_699161	Q8NHS0	DNJB8_HUMAN		GBM - Glioblastoma multiforme(114;0.177)	2	1846	-			62			J.		B3KWV7	Missense_Mutation	SNP	ENST00000469083.1	37	c.185G>A	CCDS3048.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550767	0.45383	.	.	ENSG00000179407	ENST00000469083;ENST00000319153	D;D	0.83335	-1.71;-1.71	4.42	4.42	0.53409	Heat shock protein DnaJ, N-terminal (4);Heat shock protein DnaJ, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.94341	0.8181	H	0.98849	4.35	0.47659	D	0.999489	D	0.89917	1.0	D	0.81914	0.995	D	0.95722	0.8767	10	0.87932	D	0	.	12.1714	0.54161	0.1711:0.8289:0.0:0.0	.	62	Q8NHS0	DNJB8_HUMAN	H	62	ENSP00000417418:R62H;ENSP00000316053:R62H	ENSP00000316053:R62H	R	-	2	0	DNAJB8	129664594	0.949000	0.32298	0.896000	0.35187	0.002000	0.02628	2.203000	0.42752	2.003000	0.58678	0.561000	0.74099	CGC		0.602	DNAJB8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356933.1	NM_153330	
ARL14	80117	broad.mit.edu	37	3	160395695	160395695	+	Silent	SNP	G	G	A			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr3:160395695G>A	ENST00000320767.2	+	1	748	c.561G>A	c.(559-561)gcG>gcA	p.A187A		NM_025047.2	NP_079323.1	Q8N4G2	ARL14_HUMAN	ADP-ribosylation factor-like 14	187					small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	GTP binding (GO:0005525)			lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			ACACTTTGGCGTTCTTCAAGC	0.473																																						uc003fdq.3																			0				lung(6)	6						c.(559-561)gcG>gcA		Homo sapiens ADP-ribosylation factor-like 14 (ARL14), mRNA.							40.0	42.0	41.0					3																	160395695		2203	4300	6503	SO:0001819	synonymous_variant	80117				small GTPase mediated signal transduction	intracellular	GTP binding	g.chr3:160395695G>A	AK026248	CCDS3192.1	3q25.33	2014-05-09	2005-11-03	2005-11-03	ENSG00000179674	ENSG00000179674		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	22974	protein-coding gene	gene with protein product		614439	"""ADP-ribosylation factor 7"""	ARF7		15367757	Standard	NM_025047		Approved	FLJ22595	uc003fdq.3	Q8N4G2	OTTHUMG00000159031	ENST00000320767.2:c.561G>A	3.37:g.160395695G>A							p.A187A	NM_025047	NP_079323	Q8N4G2	ARL14_HUMAN	Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)		0	748	+			187					Q9H655	Silent	SNP	ENST00000320767.2	37	c.561G>A	CCDS3192.1																																																																																				0.473	ARL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352958.1	NM_025047	
KNG1	3827	broad.mit.edu	37	3	186459456	186459456	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr3:186459456G>A	ENST00000265023.4	+	10	1483	c.1271G>A	c.(1270-1272)gGg>gAg	p.G424E	RP11-573D15.8_ENST00000354642.2_RNA|RP11-573D15.8_ENST00000609726.1_RNA|RP11-573D15.8_ENST00000599314.1_RNA|RP11-573D15.8_ENST00000596329.1_RNA|RP11-573D15.8_ENST00000596632.1_RNA|KNG1_ENST00000287611.2_Intron|RP11-573D15.8_ENST00000609652.1_RNA|KNG1_ENST00000447445.1_Intron	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	424	His-rich.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		AAAGAACAAGGGCATACTCGT	0.458																																						uc011bsa.2																			0		p.E423D(1)		endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21						c.(1270-1272)gGg>gAg		Homo sapiens kininogen 1 (KNG1), transcript variant 1, mRNA.	Ouabain(DB01092)						96.0	98.0	97.0					3																	186459456		2195	4299	6494	SO:0001583	missense	3827				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	g.chr3:186459456G>A		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"""Endogenous ligands"""	6383	protein-coding gene	gene with protein product	"""alpha-2-thiol proteinase inhibitor"", ""bradykinin"""	612358	"""kininogen"""	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.1271G>A	3.37:g.186459456G>A	ENSP00000265023:p.Gly424Glu					KNG1_uc003fqr.3_Intron|KNG1_uc021xil.1_Intron	p.G424E	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	9	1505	+	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		424			His-rich.		A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Missense_Mutation	SNP	ENST00000265023.4	37	c.1271G>A	CCDS43183.1	.	.	.	.	.	.	.	.	.	.	G	9.238	1.037530	0.19669	.	.	ENSG00000113889	ENST00000265023	T	0.17528	2.27	5.24	2.4	0.29515	.	0.712836	0.12775	N	0.440173	T	0.19485	0.0468	M	0.73962	2.25	0.09310	N	1	B	0.17465	0.022	B	0.17433	0.018	T	0.22871	-1.0204	9	.	.	.	-1.2216	7.0271	0.24946	0.2921:0.0:0.7079:0.0	.	424	P01042	KNG1_HUMAN	E	424	ENSP00000265023:G424E	.	G	+	2	0	KNG1	187942150	0.043000	0.20138	0.091000	0.20842	0.010000	0.07245	1.120000	0.31271	0.428000	0.26173	-0.150000	0.13652	GGG		0.458	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416	
UGT2B10	7365	broad.mit.edu	37	4	69681966	69681966	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr4:69681966C>A	ENST00000265403.7	+	1	256	c.229C>A	c.(229-231)Cct>Act	p.P77T	UGT2B10_ENST00000458688.2_Missense_Mutation_p.P77T	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	77					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TGAAGTTTATCCTACATCTTT	0.348																																					Melanoma(133;755 1763 25578 26334 46021)	uc003hee.3																			0				endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						c.(229-231)Cct>Act		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.							78.0	84.0	82.0					4																	69681966		2201	4296	6497	SO:0001583	missense	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69681966C>A	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"""UDP glucuronosyltransferases"""	12544	protein-coding gene	gene with protein product		600070	"""UDP glycosyltransferase 2 family, polypeptide B10"""			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.229C>A	4.37:g.69681966C>A	ENSP00000265403:p.Pro77Thr					UGT2B10_uc011cam.2_Missense_Mutation_p.P77T	p.P77T	NM_001075	NP_001066	P36537	UDB10_HUMAN			0	254	+			77					A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	ENST00000265403.7	37	c.229C>A		.	.	.	.	.	.	.	.	.	.	c	7.675	0.687873	0.14973	.	.	ENSG00000109181	ENST00000265403;ENST00000458688	T;T	0.61742	0.08;3.32	2.63	-0.36	0.12568	.	0.421279	0.21149	U	0.079342	T	0.64148	0.2572	L	0.55213	1.73	0.09310	N	1	D;P	0.55605	0.972;0.619	D;P	0.68765	0.96;0.543	T	0.56341	-0.7995	10	0.66056	D	0.02	.	6.765	0.23562	0.0:0.6341:0.0:0.3659	.	77;77	B4DPP1;P36537	.;UDB10_HUMAN	T	77	ENSP00000265403:P77T;ENSP00000413420:P77T	ENSP00000265403:P77T	P	+	1	0	UGT2B10	69716555	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.912000	0.01582	-0.474000	0.06862	0.184000	0.17185	CCT		0.348	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075	
TLR2	7097	broad.mit.edu	37	4	154625962	154625962	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr4:154625962C>T	ENST00000260010.6	+	1	3311	c.1903C>T	c.(1903-1905)Ccc>Tcc	p.P635S		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	635					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	CAGGAAAGCTCCCAGCAGGAA	0.537																																						uc003inq.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29						c.(1903-1905)Ccc>Tcc		Homo sapiens toll-like receptor 2 (TLR2), mRNA.							36.0	35.0	36.0					4																	154625962		2203	4300	6503	SO:0001583	missense	7097				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	g.chr4:154625962C>T	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.1903C>T	4.37:g.154625962C>T	ENSP00000260010:p.Pro635Ser					TLR2_uc003inr.3_Missense_Mutation_p.P635S|TLR2_uc003ins.3_Missense_Mutation_p.P635S|TLR2_uc021xtl.1_Missense_Mutation_p.P635S	p.P635S	NM_003264	NP_003255	O60603	TLR2_HUMAN			2	2122	+	all_hematologic(180;0.093)	Renal(120;0.117)	635					B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	ENST00000260010.6	37	c.1903C>T	CCDS3784.1	.	.	.	.	.	.	.	.	.	.	C	4.543	0.100786	0.08731	.	.	ENSG00000137462	ENST00000260010	T	0.28666	1.6	5.65	2.79	0.32731	.	0.475184	0.21745	N	0.069763	T	0.27278	0.0669	L	0.58810	1.83	0.09310	N	1	B	0.15719	0.014	B	0.17098	0.017	T	0.26224	-1.0109	10	0.62326	D	0.03	.	6.0834	0.19954	0.1313:0.5478:0.2534:0.0674	.	635	O60603	TLR2_HUMAN	S	635	ENSP00000260010:P635S	ENSP00000260010:P635S	P	+	1	0	TLR2	154845412	0.000000	0.05858	0.010000	0.14722	0.579000	0.36224	-0.094000	0.11094	0.677000	0.31305	0.655000	0.94253	CCC		0.537	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1		
CDH9	1007	broad.mit.edu	37	5	26902589	26902589	+	Missense_Mutation	SNP	T	T	A			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr5:26902589T>A	ENST00000231021.4	-	7	1421	c.1249A>T	c.(1249-1251)Ata>Tta	p.I417L		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	417	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ACTTACTTTATTAAATTGTTC	0.308																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(1249-1251)Ata>Tta		Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.							63.0	60.0	61.0					5																	26902589		2202	4299	6501	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26902589T>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1249A>T	5.37:g.26902589T>A	ENSP00000231021:p.Ile417Leu						p.I417L	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			6	1418	-			417			Cadherin 4.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.1249A>T	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	T	16.55	3.154238	0.57259	.	.	ENSG00000113100	ENST00000231021	T	0.55588	0.51	5.62	3.21	0.36854	Cadherin (4);Cadherin-like (1);	0.103582	0.64402	D	0.000003	T	0.44307	0.1287	L	0.45698	1.435	0.37210	D	0.904775	B	0.22480	0.07	B	0.32149	0.141	T	0.39941	-0.9589	9	.	.	.	.	7.9694	0.30119	0.0:0.234:0.0:0.766	.	417	Q9ULB4	CADH9_HUMAN	L	417	ENSP00000231021:I417L	.	I	-	1	0	CDH9	26938346	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.235000	0.32671	0.972000	0.38314	0.528000	0.53228	ATA		0.308	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279	
SPEF2	79925	broad.mit.edu	37	5	35641735	35641735	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr5:35641735C>T	ENST00000356031.3	+	3	518	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C	SPEF2_ENST00000282469.6_Missense_Mutation_p.R122C|SPEF2_ENST00000509059.1_Missense_Mutation_p.R122C|SPEF2_ENST00000440995.2_Missense_Mutation_p.R122C	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	122					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AACCATGCAACGTCTGACAAA	0.358																																						uc003jjo.3																			0		p.R122H(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(364-366)Cgt>Tgt		Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.							83.0	84.0	83.0					5																	35641735		2203	4300	6503	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35641735C>T	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.364C>T	5.37:g.35641735C>T	ENSP00000348314:p.Arg122Cys					SPEF2_uc003jjn.1_Missense_Mutation_p.R122C|SPEF2_uc003jjq.4_Missense_Mutation_p.R122C	p.R122C	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		2	475	+	all_lung(31;7.56e-05)		122					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.364C>T	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.282771	0.40394	.	.	ENSG00000152582	ENST00000282469;ENST00000356031;ENST00000509059;ENST00000510777;ENST00000440995	T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88	5.93	5.07	0.68467	.	0.227295	0.46145	D	0.000302	T	0.20047	0.0482	N	0.08118	0	0.80722	D	1	P;P;D	0.56287	0.938;0.951;0.975	P;P;P	0.47376	0.545;0.498;0.491	T	0.11324	-1.0592	10	0.66056	D	0.02	.	15.4348	0.75137	0.0:0.9336:0.0:0.0664	.	122;122;122	D6REZ4;Q9C093;Q9C093-3	.;SPEF2_HUMAN;.	C	122	ENSP00000282469:R122C;ENSP00000348314:R122C;ENSP00000421593:R122C;ENSP00000426259:R122C;ENSP00000412125:R122C	ENSP00000282469:R122C	R	+	1	0	SPEF2	35677492	1.000000	0.71417	0.013000	0.15412	0.015000	0.08874	4.507000	0.60434	1.533000	0.49186	-0.123000	0.14984	CGT		0.358	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722	
EFNA5	1946	broad.mit.edu	37	5	106763058	106763058	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr5:106763058G>C	ENST00000333274.6	-	2	559	c.278C>G	c.(277-279)aCt>aGt	p.T93S	EFNA5_ENST00000509503.1_Missense_Mutation_p.T93S	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5	93	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				axon guidance (GO:0007411)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell-cell adhesion (GO:0022407)|regulation of focal adhesion assembly (GO:0051893)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rho GTPase activity (GO:0032319)|retinal ganglion cell axon guidance (GO:0031290)	anchored component of external side of plasma membrane (GO:0031362)|plasma membrane (GO:0005886)	chemorepellent activity (GO:0045499)|ephrin receptor binding (GO:0046875)			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		CCCTTTGGAAGTGTGGTCGCA	0.488																																						uc003kol.3																			0				large_intestine(6)	6						c.(277-279)aCt>aGt		Homo sapiens ephrin-A5 (EFNA5), mRNA.							128.0	125.0	126.0					5																	106763058		2202	4300	6502	SO:0001583	missense	1946				cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding	g.chr5:106763058G>C	U26403	CCDS4097.1	5q21	2011-03-09			ENSG00000184349	ENSG00000184349		"""Ephrins"""	3225	protein-coding gene	gene with protein product		601535		EPLG7		8661153, 9245480	Standard	NM_001962		Approved	AF1, LERK7	uc003kol.3	P52803	OTTHUMG00000128741	ENST00000333274.6:c.278C>G	5.37:g.106763058G>C	ENSP00000328777:p.Thr93Ser					EFNA5_uc010jbr.1_Missense_Mutation_p.T93S	p.T93S	NM_001962	NP_001953	P52803	EFNA5_HUMAN		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)	1	560	-		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)	93						Missense_Mutation	SNP	ENST00000333274.6	37	c.278C>G	CCDS4097.1	.	.	.	.	.	.	.	.	.	.	G	9.262	1.043436	0.19748	.	.	ENSG00000184349	ENST00000333274;ENST00000509503	D;D	0.92858	-3.12;-3.12	6.06	6.06	0.98353	Cupredoxin (2);	0.042571	0.85682	D	0.000000	D	0.87649	0.6230	L	0.42686	1.345	0.58432	D	0.999998	B;B	0.21753	0.06;0.001	B;B	0.18871	0.023;0.006	T	0.82063	-0.0643	10	0.08381	T	0.77	-6.0541	15.7203	0.77705	0.0668:0.0:0.9332:0.0	.	93;93	D6RDV5;P52803	.;EFNA5_HUMAN	S	93	ENSP00000328777:T93S;ENSP00000426989:T93S	ENSP00000328777:T93S	T	-	2	0	EFNA5	106790957	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.434000	0.73408	2.882000	0.98803	0.655000	0.94253	ACT		0.488	EFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250652.1	NM_001962	
KIF4B	285643	broad.mit.edu	37	5	154396474	154396474	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr5:154396474G>A	ENST00000435029.4	+	1	3215	c.3055G>A	c.(3055-3057)Gaa>Aaa	p.E1019K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1019	Globular. {ECO:0000250}.|Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTCTTCTTTTGAATATATCCC	0.403																																						uc010jih.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(3055-3057)Gaa>Aaa		Homo sapiens kinesin family member 4B (KIF4B), mRNA.							136.0	140.0	138.0					5																	154396474		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154396474G>A	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.3055G>A	5.37:g.154396474G>A	ENSP00000387875:p.Glu1019Lys						p.E1019K	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		0	3215	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	1019			Globular (By similarity).|Interaction with PRC1 (By similarity).			Missense_Mutation	SNP	ENST00000435029.4	37	c.3055G>A	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.892181	0.33442	.	.	ENSG00000226650	ENST00000435029	T	0.69806	-0.43	1.77	1.77	0.24775	.	.	.	.	.	T	0.51075	0.1653	L	0.53249	1.67	0.41536	D	0.988484	P	0.41313	0.745	B	0.27500	0.08	T	0.53236	-0.8467	9	0.32370	T	0.25	.	9.5105	0.39074	0.0:0.0:1.0:0.0	.	1019	Q2VIQ3	KIF4B_HUMAN	K	1019	ENSP00000387875:E1019K	ENSP00000387875:E1019K	E	+	1	0	KIF4B	154376667	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.444000	0.44890	1.290000	0.44636	0.563000	0.77884	GAA		0.403	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1		
SLIT3	6586	broad.mit.edu	37	5	168176560	168176560	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr5:168176560C>T	ENST00000519560.1	-	19	2473	c.2054G>A	c.(2053-2055)aGt>aAt	p.S685N	SLIT3_ENST00000404867.3_Missense_Mutation_p.S685N|SLIT3_ENST00000332966.8_Missense_Mutation_p.S685N	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	685	LRRCT 3.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGGTTCCCACTGACGATCCG	0.557																																					Ovarian(29;311 847 10864 17279 24903)	uc010jjg.3																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2053-2055)aGt>aAt		Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.							117.0	118.0	117.0					5																	168176560		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168176560C>T	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.2054G>A	5.37:g.168176560C>T	ENSP00000430333:p.Ser685Asn					SLIT3_uc003mab.3_Missense_Mutation_p.S685N	p.S685N	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		18	2474	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	685			LRRCT 3.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.2054G>A	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143029	0.77888	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.76448	-1.01;-1.02;-1.0	5.42	5.42	0.78866	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.74023	0.3662	L	0.32530	0.975	0.80722	D	1	P	0.37233	0.588	B	0.40602	0.334	T	0.75462	-0.3309	10	0.52906	T	0.07	.	19.2213	0.93797	0.0:1.0:0.0:0.0	.	685	O75094	SLIT3_HUMAN	N	685	ENSP00000430333:S685N;ENSP00000332164:S685N;ENSP00000384890:S685N	ENSP00000332164:S685N	S	-	2	0	SLIT3	168109138	0.988000	0.35896	0.813000	0.32504	0.879000	0.50718	2.598000	0.46223	2.525000	0.85131	0.655000	0.94253	AGT		0.557	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062	
KIF13A	63971	broad.mit.edu	37	6	17788096	17788097	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr6:17788096_17788097delAA	ENST00000259711.6	-	27	3376_3377	c.3271_3272delTT	c.(3271-3273)ttafs	p.L1091fs	KIF13A_ENST00000378826.2_Frame_Shift_Del_p.L1091fs|KIF13A_ENST00000378814.5_Frame_Shift_Del_p.L1078fs|KIF13A_ENST00000378843.2_Frame_Shift_Del_p.L1078fs|KIF13A_ENST00000378816.5_Frame_Shift_Del_p.L1091fs	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1091					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TACGCAGTTTAAGTCTTCTTCC	0.366																																						uc003ncg.4																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(3271-3273)ttafs		Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17788096_17788097delAA	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.3271_3272delTT	6.37:g.17788096_17788097delAA	ENSP00000259711:p.Leu1091fs					KIF13A_uc003ncf.3_Frame_Shift_Del_p.L1078fs|KIF13A_uc003nch.4_Frame_Shift_Del_p.L1091fs|KIF13A_uc003nci.4_Frame_Shift_Del_p.L1078fs	p.L1091fs	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		26	3431_3432	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	1091					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Frame_Shift_Del	DEL	ENST00000259711.6	37	c.3271_3272delTT	CCDS47381.1																																																																																				0.366	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4		
COL11A2	1302	broad.mit.edu	37	6	33143356	33143356	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr6:33143356C>T	ENST00000374708.4	-	28	2371	c.2113G>A	c.(2113-2115)Gag>Aag	p.E705K	COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000395197.1_Missense_Mutation_p.E731K|COL11A2_ENST00000357486.1_Missense_Mutation_p.E770K|COL11A2_ENST00000341947.2_Missense_Mutation_p.E791K|COL11A2_ENST00000374712.1_Missense_Mutation_p.E710K|COL11A2_ENST00000374713.1_Missense_Mutation_p.E744K|COL11A2_ENST00000374714.1_Missense_Mutation_p.E765K|COL11A2_ENST00000361917.1_Missense_Mutation_p.E684K	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	791	Triple-helical region.			NQ -> KP (in Ref. 6; AAA35498). {ECO:0000305}.	cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ATCACCTTCTCGCCCATGAGC	0.657																																					Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(2371-2373)Gag>Aag		Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.							95.0	81.0	86.0					6																	33143356		1511	2708	4219	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33143356C>T	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.2113G>A	6.37:g.33143356C>T	ENSP00000363840:p.Glu705Lys					COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.E705K|COL11A2_uc003ocz.1_Missense_Mutation_p.E684K	p.E791K	NM_080680	NP_542411	P13942	COBA2_HUMAN			29	2599	-			791			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.2371G>A	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.976049	0.92982	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24;-3.24;-3.24;-3.24;-3.24	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	D	0.94245	0.8152	L	0.45698	1.435	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.993;0.993	D	0.94698	0.7880	10	0.66056	D	0.02	.	14.6683	0.68924	0.0:1.0:0.0:0.0	.	684;705;791	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	K	705;791;770;765;744;731;710;684	ENSP00000363840:E705K;ENSP00000339915:E791K;ENSP00000350079:E770K;ENSP00000363846:E765K;ENSP00000363845:E744K;ENSP00000378623:E731K;ENSP00000363844:E710K;ENSP00000355123:E684K	ENSP00000339915:E791K	E	-	1	0	COL11A2	33251334	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.131000	0.77243	2.421000	0.82119	0.478000	0.44815	GAG		0.657	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2		
GPR31	2853	broad.mit.edu	37	6	167571202	167571202	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr6:167571202G>C	ENST00000366834.1	-	1	615	c.118C>G	c.(118-120)Ctg>Gtg	p.L40V		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	40					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		ACCCGGAACAGGAAGGTCCAC	0.662																																						uc011egq.2																			0				NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17						c.(118-120)Ctg>Gtg		Homo sapiens G protein-coupled receptor 31 (GPR31), mRNA.							54.0	40.0	45.0					6																	167571202		2203	4300	6503	SO:0001583	missense	2853					integral to plasma membrane	G-protein coupled receptor activity	g.chr6:167571202G>C	U65402	CCDS5299.1	6q27	2012-08-21				ENSG00000120436		"""GPCR / Class A : Orphans"""	4486	protein-coding gene	gene with protein product	"""hydroxyeicosatetraenoic (HETE) acid receptor 1"", ""12-(S)-HETE acid receptor"""	602043				9205127, 21712392	Standard	NM_005299		Approved	HETER1, 12-HETER	uc011egq.2	O00270		ENST00000366834.1:c.118C>G	6.37:g.167571202G>C	ENSP00000355799:p.Leu40Val						p.L40V	NM_005299	NP_005290	O00270	GPR31_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)	0	118	-		Breast(66;1.53e-05)|Ovarian(120;0.0606)	40					B0M0K2|Q4VBL3|Q9NQ20	Missense_Mutation	SNP	ENST00000366834.1	37	c.118C>G	CCDS5299.1	.	.	.	.	.	.	.	.	.	.	G	3.843	-0.033401	0.07543	.	.	ENSG00000120436	ENST00000366834	T	0.39056	1.1	3.54	-4.55	0.03441	GPCR, rhodopsin-like superfamily (1);	1.545570	0.04635	N	0.404363	T	0.08891	0.0220	L	0.28115	0.83	0.22240	N	0.999267	B	0.18310	0.027	B	0.20384	0.029	T	0.17440	-1.0369	10	0.22706	T	0.39	-11.1782	3.9855	0.09514	0.4417:0.0:0.2903:0.268	.	40	O00270	GPR31_HUMAN	V	40	ENSP00000355799:L40V	ENSP00000355799:L40V	L	-	1	2	GPR31	167491192	0.000000	0.05858	0.355000	0.25773	0.350000	0.29205	-0.778000	0.04664	-0.611000	0.05709	0.313000	0.20887	CTG		0.662	GPR31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043111.1	NM_005299	
TNKS	8658	broad.mit.edu	37	8	9565981	9565981	+	Silent	SNP	G	G	A	rs370231803		TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr8:9565981G>A	ENST00000310430.6	+	9	1583	c.1557G>A	c.(1555-1557)ccG>ccA	p.P519P	TNKS_ENST00000520408.1_Silent_p.P519P|TNKS_ENST00000518281.1_Silent_p.P282P	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	519					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TCAAACAACCGCAGTCTCATG	0.328																																						uc003wss.3																			0				NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(1555-1557)ccG>ccA		Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.							113.0	125.0	121.0					8																	9565981		2203	4299	6502	SO:0001819	synonymous_variant	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9565981G>A	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.1557G>A	8.37:g.9565981G>A						TNKS_uc011kwv.1_Silent_p.P519P|TNKS_uc011kww.2_Silent_p.P282P	p.P519P	NM_003747	NP_003738	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	8	1562	+			519					O95272|Q4G0F2	Silent	SNP	ENST00000310430.6	37	c.1557G>A	CCDS5974.1																																																																																				0.328	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747	
KIAA1429	25962	broad.mit.edu	37	8	95531632	95531632	+	Silent	SNP	A	A	G			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr8:95531632A>G	ENST00000297591.5	-	9	2169	c.2094T>C	c.(2092-2094)ccT>ccC	p.P698P	KIAA1429_ENST00000437199.1_Silent_p.P698P|KIAA1429_ENST00000421249.2_Silent_p.P698P	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	698					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GCAGCACACCAGGGTGAGCAC	0.388																																						uc003ygo.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(2092-2094)ccT>ccC		Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.							62.0	62.0	62.0					8																	95531632		2198	4288	6486	SO:0001819	synonymous_variant	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95531632A>G	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.2094T>C	8.37:g.95531632A>G						KIAA1429_uc003ygp.3_Silent_p.P698P|KIAA1429_uc010maz.2_Non-coding_Transcript	p.P698P	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		8	2165	-	Breast(36;3.29e-05)		698					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Silent	SNP	ENST00000297591.5	37	c.2094T>C	CCDS34923.1																																																																																				0.388	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496	
FOXH1	8928	broad.mit.edu	37	8	145700407	145700407	+	Silent	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr8:145700407C>T	ENST00000377317.4	-	3	890	c.312G>A	c.(310-312)aaG>aaA	p.K104K	FOXH1_ENST00000525197.1_5'UTR	NM_003923.2	NP_003914.1	O75593	FOXH1_HUMAN	forkhead box H1	104					aorta morphogenesis (GO:0035909)|axial mesoderm development (GO:0048318)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|heart looping (GO:0001947)|negative regulation of androgen receptor activity (GO:2000824)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|outflow tract morphogenesis (GO:0003151)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|secondary heart field specification (GO:0003139)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular trabecula myocardium morphogenesis (GO:0003222)	activin responsive factor complex (GO:0032444)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|co-SMAD binding (GO:0070410)|enhancer binding (GO:0035326)|protein domain specific binding (GO:0019904)|R-SMAD binding (GO:0070412)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			AGAAGTTGCCCTTGGCCTGGG	0.687																																						uc003zdc.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(310-312)aaG>aaA		Homo sapiens forkhead box H1 (FOXH1), mRNA.							15.0	12.0	13.0					8																	145700407		2190	4277	6467	SO:0001819	synonymous_variant	8928				axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway	activin responsive factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|R-SMAD binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr8:145700407C>T	AF076292	CCDS6428.1	8q24.3	2014-08-12			ENSG00000160973			"""Forkhead boxes"""	3814	protein-coding gene	gene with protein product		603621				9702198	Standard	NM_003923		Approved	FAST1	uc003zdc.3	O75593	OTTHUMG00000165172	ENST00000377317.4:c.312G>A	8.37:g.145700407C>T							p.K104K	NM_003923	NP_003914	O75593	FOXH1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		2	891	-	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		104					D3DWM4	Silent	SNP	ENST00000377317.4	37	c.312G>A	CCDS6428.1																																																																																				0.687	FOXH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382451.1		
FAM214B	80256	broad.mit.edu	37	9	35108147	35108147	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr9:35108147G>A	ENST00000378561.1	-	2	3180	c.125C>T	c.(124-126)gCg>gTg	p.A42V	FAM214B_ENST00000378566.1_5'UTR|FAM214B_ENST00000605244.1_Missense_Mutation_p.A42V|FAM214B_ENST00000488109.2_Missense_Mutation_p.A42V|FAM214B_ENST00000378554.2_Missense_Mutation_p.A42V|FAM214B_ENST00000378557.1_Missense_Mutation_p.A42V|FAM214B_ENST00000322813.5_Missense_Mutation_p.A42V|FAM214B_ENST00000603301.1_Missense_Mutation_p.A42V|FAM214B_ENST00000605392.1_5'Flank			Q7L5A3	F214B_HUMAN	family with sequence similarity 214, member B	42						nucleus (GO:0005634)											GGGGGATGTCGCCCCCCCTGC	0.652																																						uc003zwl.3																			0											c.(124-126)gCg>gTg		Homo sapiens family with sequence similarity 214, member B (FAM214B), mRNA.							12.0	13.0	13.0					9																	35108147		2148	4216	6364	SO:0001583	missense	80256					nucleus		g.chr9:35108147G>A	AB040972	CCDS6578.1	9p13.2	2011-12-01	2011-12-01	2011-12-01	ENSG00000005238	ENSG00000005238			25666	protein-coding gene	gene with protein product			"""KIAA1539"""	KIAA1539		10819331	Standard	NM_025182		Approved	FLJ11560, bA182N22.6	uc003zwo.3	Q7L5A3	OTTHUMG00000019847	ENST00000378561.1:c.125C>T	9.37:g.35108147G>A	ENSP00000367823:p.Ala42Val					FAM214B_uc003zwm.3_Missense_Mutation_p.A42V|FAM214B_uc003zwn.3_5'UTR|FAM214B_uc003zwo.3_Missense_Mutation_p.A42V|FAM214B_uc003zwp.1_Missense_Mutation_p.A42V|FAM214B_uc010mkk.1_Non-coding_Transcript|FAM214B_uc022bgj.1_Missense_Mutation_p.A42V	p.A42V	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN			2	450	-			42					B1AML4|B1AML5|D3DRN5|O60377|Q9BQ60|Q9HAI9|Q9P1Y9	Missense_Mutation	SNP	ENST00000378561.1	37	c.125C>T	CCDS6578.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.411928	0.25465	.	.	ENSG00000005238	ENST00000322813;ENST00000378561;ENST00000378557;ENST00000378554	.	.	.	4.72	1.92	0.25849	.	0.397496	0.24398	N	0.038871	T	0.23806	0.0576	L	0.36672	1.1	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.31447	-0.9943	9	0.02654	T	1	-0.493	6.3687	0.21469	0.465:0.0:0.535:0.0	.	42	Q7L5A3	K1539_HUMAN	V	42	.	ENSP00000319897:A42V	A	-	2	0	KIAA1539	35098147	0.763000	0.28462	0.525000	0.27900	0.982000	0.71751	0.882000	0.28186	0.236000	0.21180	-0.254000	0.11334	GCG		0.652	FAM214B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052261.1	NM_025182	
FAM102A	399665	broad.mit.edu	37	9	130710434	130710434	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr9:130710434C>T	ENST00000373095.1	-	6	907	c.532G>A	c.(532-534)Ggt>Agt	p.G178S	FAM102A_ENST00000300434.3_Intron|FAM102A_ENST00000373084.4_Missense_Mutation_p.G36S	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	178	Ser-rich.									breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						CTGGTCCCACCACCCTTACAC	0.612																																						uc004bsx.2																			0				breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						c.(532-534)Ggt>Agt		Homo sapiens family with sequence similarity 102, member A (FAM102A), transcript variant 1, mRNA.							90.0	80.0	83.0					9																	130710434		2203	4300	6503	SO:0001583	missense	399665							g.chr9:130710434C>T		CCDS6888.1, CCDS35150.1	9q34.11	2012-11-05	2005-11-17	2005-11-17	ENSG00000167106	ENSG00000167106			31419	protein-coding gene	gene with protein product	"""sym-3 homolog A (C. elegans)"""	610891	"""chromosome 9 open reading frame 132"""	C9orf132			Standard	NM_001035254		Approved	Eeig1, bA203J24.7, SYM-3A	uc004bsx.2	Q5T9C2	OTTHUMG00000020720	ENST00000373095.1:c.532G>A	9.37:g.130710434C>T	ENSP00000362187:p.Gly178Ser					FAM102A_uc004bsw.1_Missense_Mutation_p.G36S|FAM102A_uc004bsy.1_5'UTR	p.G178S	NM_001035254	NP_976050	Q5T9C2	F102A_HUMAN			5	928	-			178			Ser-rich.		A2A329|Q8TEL4	Missense_Mutation	SNP	ENST00000373095.1	37	c.532G>A	CCDS35150.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.635996	0.47049	.	.	ENSG00000167106	ENST00000373095;ENST00000373084	.	.	.	4.99	4.99	0.66335	.	0.110976	0.64402	D	0.000011	T	0.51924	0.1703	L	0.49126	1.545	0.34060	D	0.657211	B	0.20368	0.044	B	0.19148	0.024	T	0.59558	-0.7432	9	0.30078	T	0.28	-22.6471	15.0086	0.71533	0.0:1.0:0.0:0.0	.	178	Q5T9C2	F102A_HUMAN	S	178;36	.	ENSP00000362176:G36S	G	-	1	0	FAM102A	129750255	0.999000	0.42202	0.999000	0.59377	0.961000	0.63080	5.416000	0.66417	2.307000	0.77673	0.563000	0.77884	GGT		0.612	FAM102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054298.2		
LAMC3	10319	broad.mit.edu	37	9	133947006	133947006	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr9:133947006C>T	ENST00000361069.4	+	18	3338	c.3205C>T	c.(3205-3207)Ctt>Ttt	p.L1069F	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1069	Domain II and I.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCATCACCTGCTTCCAGGTAC	0.672																																						uc004caa.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(3205-3207)Ctt>Ttt		Homo sapiens laminin, gamma 3 (LAMC3), mRNA.							33.0	33.0	33.0					9																	133947006		2203	4300	6503	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133947006C>T	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.3205C>T	9.37:g.133947006C>T	ENSP00000354360:p.Leu1069Phe						p.L1069F	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	17	3303	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1069			Domain II and I.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.3205C>T	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	C	7.419	0.636278	0.14386	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.31510	1.49	5.34	-1.19	0.09585	.	0.473148	0.20292	N	0.095215	T	0.20659	0.0497	L	0.45581	1.43	0.09310	N	1	B	0.14438	0.01	B	0.15484	0.013	T	0.13388	-1.0511	10	0.37606	T	0.19	.	5.0172	0.14343	0.0:0.4209:0.2615:0.3176	.	1069	Q9Y6N6	LAMC3_HUMAN	F	1069	ENSP00000354360:L1069F	ENSP00000347156:L1069F	L	+	1	0	LAMC3	132936827	0.002000	0.14202	0.014000	0.15608	0.383000	0.30230	-0.166000	0.09954	-0.241000	0.09681	0.650000	0.86243	CTT		0.672	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059	
PPEF1	5475	broad.mit.edu	37	X	18797156	18797156	+	Missense_Mutation	SNP	A	A	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chrX:18797156A>T	ENST00000361511.4	+	10	1081	c.587A>T	c.(586-588)tAt>tTt	p.Y196F	PPEF1_ENST00000359763.6_Missense_Mutation_p.Y143F|PPEF1_ENST00000544635.1_Missense_Mutation_p.Y131F|PPEF1_ENST00000349874.5_Missense_Mutation_p.Y196F|PPEF1_ENST00000543630.1_Missense_Mutation_p.Y196F	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	196	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					AGGAACCCGTATGTTTTTAAT	0.408																																						uc004cyq.3																			0		p.P195Q(1)		breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43						c.(586-588)tAt>tTt		Homo sapiens protein phosphatase, EF-hand calcium binding domain 1 (PPEF1), transcript variant 1, mRNA.							154.0	158.0	156.0					X																	18797156		2203	4300	6503	SO:0001583	missense	5475				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chrX:18797156A>T	BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.587A>T	X.37:g.18797156A>T	ENSP00000354871:p.Tyr196Phe					PPEF1_uc004cyp.3_Missense_Mutation_p.Y196F|PPEF1_uc004cyr.3_Missense_Mutation_p.Y196F|PPEF1_uc004cys.3_Missense_Mutation_p.Y196F|PPEF1_uc011mja.2_Missense_Mutation_p.Y131F|PPEF1_uc011mjb.2_Missense_Mutation_p.Y140F	p.Y196F	NM_006240	NP_006231	O14829	PPE1_HUMAN			9	1068	+	Hepatocellular(33;0.183)		196			Catalytic.		A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Missense_Mutation	SNP	ENST00000361511.4	37	c.587A>T	CCDS14188.1	.	.	.	.	.	.	.	.	.	.	A	15.17	2.752824	0.49362	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000543630;ENST00000544635	D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05	5.0	5.0	0.66597	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.52532	D	0.000080	D	0.91828	0.7414	M	0.77616	2.38	0.58432	D	0.999999	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.996	D	0.92643	0.6126	10	0.66056	D	0.02	-20.6946	13.9239	0.63950	1.0:0.0:0.0:0.0	.	196;196;196	O14829-5;O14829;O14829-3	.;PPE1_HUMAN;.	F	196;143;196;196;131	ENSP00000354871:Y196F;ENSP00000352806:Y143F;ENSP00000341892:Y196F;ENSP00000437785:Y196F;ENSP00000441289:Y131F	ENSP00000341892:Y196F	Y	+	2	0	PPEF1	18707077	1.000000	0.71417	0.032000	0.17829	0.048000	0.14542	8.907000	0.92634	1.664000	0.50801	0.430000	0.28490	TAT		0.408	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240	
GPR64	10149	broad.mit.edu	37	X	19025360	19025360	+	Frame_Shift_Del	DEL	G	G	-			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chrX:19025360delG	ENST00000379869.3	-	20	1845	c.1682delC	c.(1681-1683)ccgfs	p.P561fs	GPR64_ENST00000340581.3_Intron|GPR64_ENST00000357991.3_Frame_Shift_Del_p.P558fs|GPR64_ENST00000379873.2_Frame_Shift_Del_p.P561fs|GPR64_ENST00000360279.4_Frame_Shift_Del_p.P539fs|GPR64_ENST00000379876.1_Frame_Shift_Del_p.P537fs|GPR64_ENST00000379878.3_Frame_Shift_Del_p.P545fs|GPR64_ENST00000357544.3_Frame_Shift_Del_p.P531fs|GPR64_ENST00000356606.4_Frame_Shift_Del_p.P547fs|GPR64_ENST00000354791.3_Frame_Shift_Del_p.P545fs	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	561					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CACCTGGCTCGGGTTGATGTG	0.502																																						uc004cyx.3																			0				breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42						c.(1681-1683)ccgfs		Homo sapiens G protein-coupled receptor 64 (GPR64), transcript variant 1, mRNA.							237.0	162.0	187.0					X																	19025360		2203	4300	6503	SO:0001589	frameshift_variant	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19025360delG	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.1682delC	X.37:g.19025360delG	ENSP00000369198:p.Pro561fs					GPR64_uc004cze.3_Frame_Shift_Del_p.P531fs|GPR64_uc004cza.3_Frame_Shift_Del_p.P539fs|GPR64_uc004czf.3_Frame_Shift_Del_p.P523fs|GPR64_uc004cyy.3_Frame_Shift_Del_p.P558fs|GPR64_uc004czc.3_Frame_Shift_Del_p.P545fs|GPR64_uc004cyz.3_Frame_Shift_Del_p.P547fs|GPR64_uc004czb.3_Frame_Shift_Del_p.P561fs|GPR64_uc004czd.3_Frame_Shift_Del_p.P537fs|GPR64_uc004cyw.3_Frame_Shift_Del_p.P545fs|GPR64_uc010nfj.3_Intron	p.P561fs	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN			19	1924	-	Hepatocellular(33;0.183)		561					B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Frame_Shift_Del	DEL	ENST00000379869.3	37	c.1682delC	CCDS43923.1																																																																																				0.502	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2		
NXF5	55998	broad.mit.edu	37	X	101096651	101096651	+	Frame_Shift_Del	DEL	G	G	-			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chrX:101096651delG	ENST00000361708.2	-	5	594	c.235delC	c.(235-237)caafs	p.Q79fs	NXF5_ENST00000537026.1_Frame_Shift_Del_p.Q79fs|NXF5_ENST00000473265.2_Frame_Shift_Del_p.Q79fs			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	79	RRM.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						CACACCTTTTGGTTCTCATCA	0.488																																						uc011mrk.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						c.(235-237)caafs		Homo sapiens nuclear RNA export factor 5 (NXF5), transcript variant 1, mRNA.							149.0	123.0	131.0					X																	101096651		2203	4300	6503	SO:0001589	frameshift_variant	55998				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chrX:101096651delG	AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.235delC	X.37:g.101096651delG	ENSP00000355286:p.Gln79fs					NXF5_uc004eih.1_Non-coding_Transcript|NXF5_uc004eii.1_Non-coding_Transcript|NXF5_uc004eij.1_Non-coding_Transcript|NXF5_uc004eik.1_Intron|NXF5_uc004eil.1_Intron	p.Q79fs	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN			4	595	-			79			RRM.		A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Frame_Shift_Del	DEL	ENST00000361708.2	37	c.235delC																																																																																					0.488	NXF5-201	KNOWN	basic	protein_coding	protein_coding			
F8	2157	broad.mit.edu	37	X	154159916	154159916	+	Missense_Mutation	SNP	G	G	A	rs137852435		TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chrX:154159916G>A	ENST00000360256.4	-	14	2349	c.2149C>T	c.(2149-2151)Cgg>Tgg	p.R717W		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	717	F5/8 type A 2.|Plastocyanin-like 4.		R -> L (in HEMA; mild). {ECO:0000269|PubMed:8759905}.|R -> W (in HEMA; mild). {ECO:0000269|PubMed:10404764, ECO:0000269|PubMed:1301932, ECO:0000269|PubMed:15810915, ECO:0000269|PubMed:8759905}.		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CCTCTGTTCCGAAAGTCTGAG	0.423																																						uc004fmt.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	GRCh37	CM920257	F8	M	rs137852435	c.(2149-2151)Cgg>Tgg		Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						67.0	62.0	63.0					X																	154159916		2202	4298	6500	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154159916G>A	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.2149C>T	X.37:g.154159916G>A	ENSP00000353393:p.Arg717Trp						p.R717W	NM_000132	NP_000123	P00451	FA8_HUMAN			13	2320	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		717		R -> L (in HEMA; mild).|R -> W (in HEMA; mild).	F5/8 type A 2.|Plastocyanin-like 4.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.2149C>T	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542576	0.65198	.	.	ENSG00000185010	ENST00000360256	D	0.98762	-5.12	5.37	4.42	0.53409	Cupredoxin (2);	0.116572	0.64402	D	0.000008	D	0.98673	0.9555	M	0.69823	2.125	0.37539	D	0.918235	D	0.89917	1.0	D	0.91635	0.999	D	0.99899	1.1155	10	0.66056	D	0.02	-16.6319	8.8773	0.35354	0.0:0.0:0.6525:0.3475	.	717	P00451	FA8_HUMAN	W	717	ENSP00000353393:R717W	ENSP00000353393:R717W	R	-	1	2	F8	153813110	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.248000	0.51430	2.240000	0.73641	0.422000	0.28245	CGG		0.423	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		
